Although fistulae between the urinary bladder and the gastrointestinal tract are not uncommon, those caused by carcinoma of the urinary bladder are rare. This report describes the case of an 85 years old male who was diagnosed with a mass involving the small bowel and the urinary bladder during the course of investigation for recurrent urinary tract infections. At laparotomy, the presence of an enterovesical fistula involving the ileum and bladder was confirmed. Histopathological examination of the resected mass showed poorly differentiated urothelial carcinoma. No early postoperative complications were encountered and postoperative cystography showed healing of the bladder without evidence of leakage. Due to the patient's age and comorbidities, no further oncological treatment was offered. Three months later the patient was readmitted to hospital with a severe pneumonia to which he succumbed. He had been treated with antibiotics by his family doctor but symptoms failed to resolve. Urinalysis was indicative of a urinary tract infection with positive nitrites, proteinuria and leukocyturia but urine culture was negative. Blood tests revealed neutrophilia and mild acute renal impairment. The patient was admitted to a medical ward, started empirically on intravenous Ciprofloxacin, and discharged 2 days later on oral antibiotics, and a urological review was arranged.He was readmitted 10 days later through emergency department Accident and Emergency (A&E) department, his symptoms persisting. At this point, he was referred to our unit. Again, no bacteria were cultivated from urine. Intravenous Co-Amoxiclav therapy was initiated. In view of these recurrent symptoms, an ultrasound examination of the urinary tract was performed. This showed a heterogenous mass containing gas, anterior to the urinary bladder measuring 8.5 × 4.9 × 6.1cm. To further characterize the findings on ultrasound examination, a computed tomography (CT) of the thorax, abdomen, and pelvis with intravenous contrast was requested. This showed a large, thick walled mass measuring 8cm superior to the urinary bladder, containing fluid and gas, communicating with the urinary bladder, and in contact with small bowel . SeveraKlebsiella oxytocaandEnterococcus faeciumwere eventually cultivated from further microbiological examination of the urine.A urinary catheter was inserted and ‘cloudy’ urine containing a sediment drained. Cystoscopy was performed primarily to localize the fistula and its relation to the ureteric orifices in preparation for extirpative surgery. At cystoscopy, the bladder was found to be full of debris and a fistulous opening was seen well away from both ureteric orifices. A Gastrografin enema of the rectum showed no leakage of contrast material from the colon into the urinary bladder.The patient underwent laparotomy, during which a complex mass involving the proximal ileum and fundus of urinary bladder together with enlarged lymph nodes in the left obturator-inguinal region were found. The small bowel mass involving a wide fistula (approximately 3 cm diameter) was dissected off the dome of the bladder . The inHistopathological examination of the resected tissues was reported as showing poorly differentiated urothelial carcinoma (pT4b). Both vascular and perineural invasion were identified. The tumor was transmural in the bladder specimen and ulcerated through the mucosa of the ileum. Resection margins were reported to be clear of tumor. Immunohistochemistry showed strong CK7, MNF116, and p63 expression. There was focal S-100 expression. There was no expression of CK20, CDX2, or Desmin.Further to an oncologist evaluation, no further treatment was planned due to the patient's advanced age and comorbidities. He was hospitalized again 3 months after discharge suffering from a severe pneumonia to which he succumbed.Fistulation between the gastrointestinal tract and the lower urinary tract is not uncommon. Most frequently, these originate from a pathological process in the gastrointestinal tract with a urological cause being much less frequent. Fistulae originating from the urinary bladder are said to account for only 4.6% of cases.Fistulae arising from complications of diverticular disease account for 65 to 79% of cases.Advanced colon and bladder malignancies account for up to one-fifth of all cases, with the latter being extremely rare.Over 75% of patients with an enterovesical fistula present with pneumaturia, faecaluria, and recurrent urinary tract infections. Faecaluria is pathognomonic.The diagnosis of enterovesical fistula is predominantly a clinical one. Functional studies, such as the charcoal test where charcoal is detected in the urine after ingestion of nonabsorbable charcoal can be performed and are positive in between 80 to 100% of cases.Cystoscopy can be helpful in diagnosis.When a bladder tumor presents as an enterovesical fistula, it is by definition a stage 4 tumor. Therefore, complete surgical excision of the bladder malignancy with en bloc resection of the involved segment of small bowel is the only surgical procedure which can be performed with a curative intent. Yet, prognosis remains relatively poor with an overall 44% 5 years and a 23% 10 years of survival.The scope of this case report is not to report the enterovesical fistula per se. As described above, enterovesical fistulae are not infrequently occurred. Our aim is to specifically highlight the cause of the pathology–a very rare cause. Indeed to our knowledge, only two cases of enterovesical fistulae secondary to transitional cell bladder carcinoma have been published in Western literature. These are the cases reported by Reig Ruiz et al (1994)Enterovesical fistulae secondary to transitional cell carcinoma of the urinary bladder are extremely rare, with only two cases published in Western literature. Not only are they rare but they are also difficult to diagnose. Thus, we recommend that a diagnosis of enterovesical fistula should always be considered in patients presenting with suggestive symptoms.


Hypercoagulability due to cancer is an overlooked cause of stroke and presents with a typical MRI pattern, that is small embolic strokes in several vascular territories. The ideal imaging modality for stroke patients remains an unanswered and evolving question, with CT and MRI presenting both advantages and disadvantages. One of the prominent advantages of utilizing MRI in evaluating acute ischemic stroke is the ability to detect small strokes below the resolution of CT scanning, to determine infarct volume, and to visualize the infarct pattern. The precision of this data can inform possible etiological considerations.We present a series of six illustrative cases who all presented with a typical, clinical stroke and had strikingly similar MRI appearances  and a common stroke mechanism, namely underlying cancer, causing hypercoagulability.2The records of two large academic centers were reviewed for cases presenting with embolic stroke and malignancy. Six cases were identified Table  with neg2.1A previously healthy 79‐year‐old woman presented with 14 days of nausea. She developed sudden left hemiparesis. Acute diffusion‐weighted imaging (DWI) showed patchy diffusion restriction in all cerebrovascular territories. Biochemistry revealed elevated basic phosphate 185 U/L, CRP 30 mg/L. Cerebrospinal fluid was normal. Transthoracic and transesophageal echocardiography was normal. Computed tomography (CT) of the thorax, abdomen, and pelvis showed a thrombus in the jugular vein, metastasis to mediastinal lymph nodes with compression of the superior vena cava, and metastasis to the liver and adrenal glands but no primary tumor.Biopsy from the liver showed poorly differentiated adenocarcinoma suspected of upper gastrointestinal tract origin. The patient quickly deteriorated and died 20 days after initial presentation.2.2A hypertensive, osteoporotic 85‐year‐old woman was found with right hemiparesis and aphasia. On MRI, she had small infarcts in all cerebrovascular territories. Biochemistry showed elevated basic phosphatase 475 U/L, with CRP 49 mL/L.CT of the thorax, abdomen, and pelvis showed a pancreatic tumor with metastasis to the liver and adrenal glands. Surgery was not offered based on imaging findings, and chemotherapy was declined by the patient. She died 23 days after initial presentation.2.3A 63‐year‐old man with a newly diagnosed lung cancer (adenocarcinoma) with bone and liver metastasis was scheduled for chemotherapy. He presented after the abrupt onset of left arm weakness, prior to the initiation of treatment. Acute MRI demonstrated a causative ischemic lesion and infarcts in all cerebrovascular territories. Transthoracic echocardiography demonstrated mild mitral insufficiency. He was treated with palliative chemotherapy, but died 74 days after the stroke.2.4A 50‐year‐old male with a history of depression was a 38‐pack‐year smoker. He presented with sudden right facial paresis and dysarthria. MRI revealed small infarcts in all vascular territories. Cerebrospinal fluid was normal. Transthoracic and transesophageal echocardiography was normal.CT of the thorax, abdomen, and pelvis showed a mass in the lung, and PET‐CT showed nodular metastasis in both lungs, metastasis to retroperitoneal lymph nodes and lymphangitis carcinomatosis. Biopsy showed adenocarcinoma.He was started on chemotherapy but died 44 days after the initial stroke.2.5A 77‐year‐old hypertensive male presented with sudden left‐sided hemiparesis and diffuse DWI changes in multiple vascular territories on acute MRI. MRA revealed a proximal vessel occlusion, and he underwent successful thrombectomy. Elevated basic phosphate 340 U/L and alanine aminotransferase 75 U/L, and CRP 41 mg/L were noted. Transthoracic echocardiography revealed a hypertensive heart, but was otherwise normal. CT of the thorax, abdomen, and pelvis showed a pancreatic tumor with liver metastasis, mesenteric metastasis, and a thrombus in the right pulmonary artery. Biopsy showed adenocarcinoma of the pancreas.The patient was deemed unfit for chemotherapy and died 49 days after presentation.2.6A 76‐year‐old female with known metastatic lung carcinoma and a history of pulmonary embolism on apixaban presented with aphasia and right‐sided weakness. Imaging with MRI revealed embolic strokes in all vascular territories. Transthoracic echocardiography was normal, with no septal defects. D‐dimer was elevated with the evidence of new thrombus on ultrasonography of the lower extremities. Family discussion leads to a conversion to hospice, and she died 28 days later.3Determination of stroke etiology is a central tenant of stroke care. Embolic stroke indicates a proximal clot source that releases thrombus into the intracranial circulation, with subsequent vessel occlusion leading to cerebral tissue damage. Practically, the source can either be atherosclerosis (artery‐to‐artery emboli), the heart, or a hypercoagulable state.Embolic stroke etiology varies widely but the pattern of embolic damage can be a clue to the source. Unilateral or single vascular territory stroke indicates that the embolic source is likely the proximal large artery . Embolic sources proximal to that can distribute emboli to all vascular territories.Hypercoagulability secondary to malignancy is the most common paraneoplastic syndrome. This phenomenon has been long recognized; Armand Trousseau described the Trousseau's sign of malignancy, migratory thrombophlebitis because of inflammation related to thrombus formation within vessels, but now the term is extended to include disseminated intravascular coagulopathy, marantic endocarditis, and arterial emboli in patients with cancer.Certain malignancies  are particularly associated with hypercoagulability. In stroke, this hypercoagulability can cause emboli through three predominant mechanisms: paradoxical embolization through a persistent foramen ovale in the atrium, generation of small clot aggregates on the undersurface of cardiac valves (marantic endocarditis), and hypercoagulability by secreted substances. The hypercoagulability can be conveyed by secretion of mucin (a “sticky” glycosylated molecule), tissue factor, and cancer procoagulant.Our patients did uniformly poor. They were not candidates for intravenous thrombolysis because of strokes of varying ages. One of our patients (case 5) was treated with thrombectomy since he had a sudden, witnessed, severe deficit and a large vessel occlusion, but proximal vessel occlusions were not noted in the remaining patients. While an encouraging recovery from multiple small strokes is often possible because of the large amount of viable tissue for plasticity, these patients’ outcomes were driven by the underlying malignancy.It is well known that cancer can be a cause of deep vein thrombosis and that this condition has a poor prognosis. In one large study, a one‐year survival of only 12% was seen.When treating stroke due to hypercoagulability, we have often extrapolated from the studies of malignancy‐induced hypercoagulability on the venous side, where low‐molecular‐weight heparin is the drug of choice.While we have pooled data from two large tertiary centers, our study is subject to the typical limitations of a small, retrospective evaluation, prominently the absence of a denominator. We also lack the ability to directly compare findings to other forms of embolic stroke. Finally, our findings are MRI based, and the utility of MRI is limited in certain environments.Hypercoagulability as seen in cancer can be a cause of stroke.Patients can present as a typical stroke patient, but MRI reveals a pattern with diffusion restriction in all vascular territories .The cancer is often an adenocarcinoma with a poor prognosis.Here, we present six cases with ischemia in a strikingly similar pattern on MRI. Our goal is to raise awareness of a characteristic MRI pattern in the setting of unremarkable echocardiography findings. All patients had arterial hypercoagulability, an underlying adenocarcinoma, and all had a poor prognosis. The presence of the imaging findings described in the absence of an identified cause should raise concern for a possible primary malignancy.None declared.CZS: conceived the idea, gathered data, performed literature search, and drafted the first version of the manuscript. ER: gathered imaging and performed imaging analysis. TM L‐M: gathered data, did literature search and supervised the project. All authors edited the final manuscript.


Colonic stenosis is a rare cause of pediatric intestinal obstruction. The root cause underlying colonic stenosis is unclear and there is no fixed operation.Clostridium difficile infection. Additional testing with barium enema imaging showed stenosis at the junction of the sigmoid and descending colon at first and another stenosis occurred at the right half of the transverse colon 3 weeks later. Staged surgical treatment was performed with primary resections of the two parts suffering stenosis, ileostomy, and secondary intestinal anastomosis. A pathological exam then confirmed the diagnosis of colonic stenosis and the patient had an uneventful recovery and has been recovering well as evidenced by the 1-year follow-up.We reported on a male infant with progressive colonic stenosis caused by antibiotic-related colitis. The infant was admitted to our hospital with pneumonia but developed progressive abdominal distension and diarrhea following antibiotic treatment with meropenem. Initial testing of stool culture showed a Clostridium difficile infection is rare in infants. Infants with colitis and repeated abdominal distention, vomiting, and constipation should be treated with the utmost caution and screened. Despite this, clinical manifestations depended on the severity of the stenosis. Barium enema, colonoscopy, laprascopy or laparotomy and colonic biopsy are helpful for diagnosis and differential diagnosis. While both one-stage and multiple-stage operations are feasible, a staged operation should be used for multiple colonic stenoses.Based on a review of the literature and our case report, we found that progressive colonic stenosis caused by colitis due to antibiotic-related  Colonic stenosis is a rare cause of pediatric intestinal obstruction. The root cause underlying colonic stenosis is unclear. Both congenital and acquired colonic stenoses (e.g post-necrotizing enterocolitis) has been reported on –29. HereClostridium difficile infection. This was considered to be antibiotic-related and oral metronidazole and vancomycin were given. His symptoms were soon resolved but after discharge he gradually developed abdominal distension and constipation. A barium enema exam on the 42nd day after birth showed stenosis at the junction of the sigmoid and descending colon and a distended proximal bowel  and toxin B (TcdB), are two closely related diarrhea-causing toxins and their presence is seen is a cause of pathogenicity. TcdB is found in all toxigenic strains, regardless of whether TcdA occurs concurrently. In addition to this, inactivation of Rho GTPases through enzymatic glucosylation of a conserved threonine residue is a similar molecular mechanism of action found in both of these toxins. Most often actin depolymerization and cell death follow, and the mechanism leads to the stimulation of an inflammatory cascade, with the end result being tissue damage, diarrhea, and pseudomembranous colitis [It has been suggested that infants who have had abdominal distension, vomiting, and constipation should be suspected to suffer from colon stenosis. The barium enema was important in the diagnosis colonic stenosis in this case as it could determine the site of obstruction and severity of stenosis. However, a colonoscopy would be an alternative method to help with diagnosis . The maj colitis , 38. MorSurgery is the major treatment of colon stenosis Tables  and 2. FClostridium difficile infection is rare in infants. Infants with colitis and repeated abdominal distention, vomiting, and constipation should be suspected and screened. Clinical manifestations depended on the severity of the stenosis. Barium enema, colonoscopy, laprascopy or laparotomy and colonic biopsy are helpful for diagnosis and differential diagnosis. Both one-stage surgery and multiple-stage operations are feasible, however staged operation should be used for multiple colonic stenoses.Based on a review of the literature and our case report, we found that progressive colonic stenosis caused by colitis due to antibiotic-related


Parathyroid carcinoma is a rare neoplasm that may present sporadically or in the context of a genetic syndrome. Diagnosis and management are challenging due to the lack of clinical and pathological features that may reliably distinguish malignant from benign disease.From January 2013 to December 2017, from 358 consecutive patients affected by parathyroid diseases, 3 patients with parathyroid carcinoma were treated at our academic Department of General Surgery. We present our experience as illustrative of the different features of clinical presentation of parathyroid carcinoma and review its management considering the recent relevant literature.Case 1: A 62-year-old man was hospitalized for left-sided palpable neck mass, hypercalcemia and elevated PTH. US-guided FNA was suspect for parathyroid carcinoma. A large cystic mass was excised in bloc with total thyroidectomy and central neck dissection. Genetic studies framed a pathologically confirmed parathyroid carcinoma within MEN1 syndrome. Case 2: A 48-year-old woman with hypothyroidism had total thyroidectomy performed for a suspect for right follicular thyroid lesion. Pathology revealed parathyroid carcinoma. Case 3: A 47 year-old man was admitted for hypercalcaemic crisis and renal failure in the context of PHPT. A lesion suggestive on US and MIBI scan for parathyroid adenoma in the right lower position was removed by mini-invasive approach. Pathology revealed parathyroid cancer and patient had completion hemythyroidectomy and central neck dissection.Parathyroid cancer is a particularly rare endocrine malignancy, however it should be suspected in patients with primary hyperparathyroidism when severe hypercalcemia is associated to cervical mass, renal and skeletal disease. Parathyroid surgery remains the mainstay of treatment. Radical tumour resection and expedited treatment in a dedicated endocrine Center represent crucial prognostic factors. Parathyroid carcinoma (PC) is an uncommon malignancy, less than 1000 recorded cases reported in literature since described by de Quervain in 1904 –6. With From January 2013 to December 2017, from 358 patients affected by parathyroid (PTs) disease, 3 patients (0.8%) were managed for PC  at our Academic Department of General Surgery. We retrospectively reviewed clinical presentation of PC, along with diagnosis, management and follow up.×) was used to dissect the mass off the strap muscles, left recurrent laryngeal nerve (RLN) and oesophagus, as the tumour was adherent by proximity to these structures. Pathology confirmed PC with no thyroid or lymph node involvement.Case 1: a 62-year-old gentleman with a background of nephrolithiasis, constipation, thalassaemia minor and non-insulin-dependent diabetes was admitted with an asymptomatic, left-sided large neck mass, raised serum calcium , elevated PTH (391.7 pg/ml) and polyuria. Doppler ultrasound scan showed a large cystic mass contiguous to the left lobe of a multinodular thyroid and to the oesophagus, partially retrosternal. CT confirmed a 9-cm lesion extending into the upper mediastinum. FNAC demonstrated a PT neoplasm. The mass was excised in bloc with total thyroidectomy and central neck dissection (CND). Microsurgical technique  was found in the MEN1 gene of the patient and of two relatives. The patient was assessed for lesions related to MEN 1. Magnetic Resonance Imaging (MRI) of the head did not document lesions in the pituitary. Pancreatic lesions suggesting MEN1-related neuroendocrine tumours were identified on endoscopic US, while CT scan detected a non-functional adrenal nodule. At 5-year follow-up, the patient shows normal calcemia and is free from recurrence. Features of this case were presented in a previous publication .Case 2: a 48-year-old woman with a background history of essential hypertension was referred to our Department for thyroid disease. Clinical examination was otherwise normal. TSH (thyroid-stimulating hormone) was 5.67 mUI/L (range 0.36–3.74 mUI/L), while FT4 (free triiodothyronine T4), FT3 (free triiodothyronine T3), serum calcium, phosphorous, calcitonin, and thyroglobulin levels were normal. PTH was not investigated. Neck US scan showed a 33x15x17 mm solid nodule with fluid areas located at the posterior margin of the right lobe of a normally sized thyroid; no adenopathy was found. FNA supported a working diagnosis of follicular thyroid lesion, and total thyroidectomy was scheduled. During surgery a solid grayish mass of 2.2 × 1.6 × 1 cm was found behind the middle third of the right lobe of the thyroid, in close contact with trachea and the oesophageal wall, and was carefully dissected off by microsurgical technique. No distinct superior PT gland could be found. The patient was uneventfully discharged 2 days after surgery. Pathology revealed intrathyroidal PC of the right thyroid lobe with a cystic component, fibrosis, endocapillary proliferation but no invasion of the thyroid gland. The 30-month follow-up did not show residual-recurrent disease.Case 3: a 47 year-old man, admitted as a medical emergency for renal failure, hypercalcaemic crisis  and symptomatic nephrolithiasis, was referred to our Department for PHPT. Physical examination was unremarkable. Aside severe renal failure and hypercalcemia, laboratory tests showed hypophosphataemia  and high PTH . Excreted 24-h urinary calcium was 494 mg/24 h (n.v. = 42–353 mg/24 h), phosphate excretion was normal and there was proteinuria. US scan identified a hypoechoic 17 × 16 mm nodule on the posterior margin of the inferior right lobe suggestive for parathyroid adenoma (PA). Technetium-99 m-sestamibi (MIBI) dual-phase scan documented increased uptake at the level of the right inferior PT gland. The patient underwent right inferior minimally invasive video-assisted parathyroidectomy. During surgery a 4 × 2.5 × 2 cm solid brown mass was found, and after resection intraoperative PTH dropped by more than 50%. Postoperative course was uneventful, with decreasing PTH levels, and the patient was discharged on the second postoperative day. Pathology revealed a PC with microscopic aspects of vascular invasion and surrounding adipose tissue infiltration. The patient was scheduled for completion surgery while showing increasing PTH levels (429.0 pg/mL n.v.: 6.4–52 pg/mL). Hemythyroidectomy and CND were performed, with uneventful recovery and discharge on postoperative day 3. Final pathology showed no thyroid or lymph nodes involvement.PCs are extremely rare tumours, in fact one of the rarest of all human cancers with an incidence of 0.015 per 100,000 population and a prevalence of 0.005% in the United States , 18. HPTEtiology of PC is unknown, and there is no evidence of PC arising from transformation of pre-existing PT lesions . InsteadPC typically displays an indolent, albeit tenacious, course; patients often exhibit symptoms and complications of severe PHPT such as anxiety, depression, weakness, weight loss, bone and renal disease, abdominal pain, nausea, pancreatitis and peptic ulcer , 8, 44.At presentation 50% of patients show both manifestations of renal and skeletal involvement including osteopenia, osteoporosis, osteofibrosis, osteitis fibrosa cystica, subperiostal resorption, “salt and pepper” skull and pathologic fractures (up to 90% of symptomatic patients) , 21, 44.Non-functioning PCs (less than 10%) usually present at a more advanced stage with symptoms of compression/invasion of adjacent structures , 47–49: Serum calcium levels in PC have been noted to be frequently higher than 3.5 mmol/L (vs. < 2.8 mmol/L in benign disease), while PTH serum levels have commonly been 3 to 10 times as high as the upper normal limit (benign PT disease may show more modest increases) , 50, 55,As in benign disease, imaging is useful for tumour localization, but cannot reliably discriminate benign from malignant disease. The use of more than one imaging method, most commonly a combination of MIBI and neck US scan, increases diagnostic sensitivity and accuracy , 57, 58.Schantz and Castleman first reported morphologic principles defining PC: fibrous bands arranged in a trabecular design, capsular invasion [Cytological and histopathological diagnosis are challenging , 20. If invasion –75, vascinvasion . Capsulainvasion , 77. Pooinvasion , 57, 78.The histological features of non-functioning and functioning PC are similar. These tumours, mainly containing clear or oxyphil cells, are large and can be misdiagnosed as cancers of the thyroid or of the thymus. Immunohistochemistry may improve diagnostic accuracy of PC as also suggested by the American Association of Endocrine Surgeons Guidelines for Definitive Management of Primary HPT. Non-functional PC may stain positively for intracellular PTH and chromogranin A, while not displaying calcitonin, thyroglobulin and thyroid transcription factor 1 . Ki67 grOther genes or their protein products, as Rb, p53, BRCA2 (breast cancer susceptibility) and PRAD1 (cyclin D1/PA 1 oncogene) , 103–105Intra-operative findings have been described that raise the suspicion of PC. In most series, the median maximal diameter of PC is 3–3.5 cm (< 10% larger than 4 cm) -as in Case 1-, compared with approximately 1.5 cm for PA , 18, 107No consensus clinical and pathological staging system for PC has been universally adopted, as there is no correlation of tumour diameter or lymph node status with survival, and the disease is rarely diagnosed preoperatively or even intraoperatively , 110. Scin-bloc and local only excision. Local excision includes pericapsular excision only of the affected PT [en bloc excision at the initial operation reduces the need for repeat surgery and improve survival outcomes; en bloc excision consists of resection of the tumour, ipsilateral thyroid lobectomy and resection of adjacent cervical muscles, paratracheal lymphatic and alveolar tissue, and -if involved- an RLN segment [en bloc resection compares with 51% after standard parathyroidectomy [en bloc resection compared with 78.5% receiving parathyroidectomy alone, most likely because of their PC not being identified either preoperatively or even intraoperatively [Historically almost 96% of patients with PC have been surgically treated , 12, andected PT . However segment , 79, 110 segment . Overallidectomy . Howeverratively .en bloc resection of PC diagnosed in retrospect is possible as long as there is removal of all structures immediately adjacent to the affected PT at the time of first surgical approach. Goal of surgery is in fact complete resection with clear gross margin ad an intact capsule.In case of thyroid surgery that encompasses parathyroid resection for PT incidentaloma (Case 3), There is no clear evidence that performing prophylactic CND or lateral neck dissection, may improve survival , 116. OnAfter PC resection intra-operative PTH levels can fall significantly, although often not as quickly as with benign disease; no PTH may indicate incomplete tumour resection, or concomitant multiple gland hyperplasia , or evenThe indication that all hyperfunctioning tissue has been removed after surgery is restoration of normal calcemia. Nevertheless, follow-up monitoring should be life-long because risk of multiple relapses may be relatively high over prolonged intervals of time after surgery . During Post-operative diagnosis of PC in a patient formerly suspected to have benign pathology, as in Cases 2 and 3, is a common clinical situation. If the macroscopic features of the tumour are typical of a PC and histology shows extensive vascular or capsular invasion, reintervention with resection of the adjacent structures should be considered: vascular invasion has been reported as an important independent predictor associated with recurrence and haematogenous spread , 112. ReLymph node and distant metastases at the time of diagnosis are uncommon, occurring respectively in 1–6% and 2–4% , 53, 122The clinical course is usually indolent, and some patients survive for years even after diagnosis of metastatic disease. Disease progression is usually marked mainly by the clinical manifestations of hypercalcemia and its related complications . In someRecurrence is typically regional, accounts for approximately two thirds of relapses  and is oThe primary treatment for tumour relapse is the surgical removal of the local recurrences and distant metastases whenever possible, even though repeat resection , 125–128At least two independent non-invasive preoperative localization studies should be performed in all patients prior to reintervention: US is effective in localizing local metastases, especially those involving neck lymph nodes, while MIBI scan can detect both local and distant metastases, which may also be visible on CT and MRI , 131. IfIn redo neck surgeries the cumulative risks for surgical complication greatly increase (up to 60%) and the RLN injury rate is higher (up to 38%) , 132.In patients affected by genetic syndromes as HPT-JT and MEN1, recurrent hypercalcemia following initial surgery may be a sign of recurrence of the primary tumour and/or distant metastases, metastases or disease in a further PT .Radiofrequency ablation, either alone or in combination with arterial embolization has been effective in treating liver and pulmonary metastases, and has shown ability to improve serum PTH and calcium levels , 135.Percutaneous US-guided alcohol injection has been reported in local recurrences, producing improvements in calcium and PTH levels in the short term . HoweverNon-operative therapies for PC generally have poor results , 53, 113. Reported experience on palliative radiotherapy is even scarcer.The results of radiotherapy are also usually non satisfactory  and currSingle case reports have provided some evidence that anti-PTH immunotherapy may help prolonged control of hypercalcaemia unresponsive to conventional treatments, and control tumor growth, in some case achieving reduction of metastatic tumor burden –144. UseWith regards to the role of immune microenvironment in parathyroid neoplasms there is paucity of material in the recent literature, and potential for use of immunotherapy in PC remains unexplored. Some authors have suggested possible benefit from immunotherapy basing on the expression in the microenvironments of PCs of lymphocytes infiltrating the tumor, death ligand 1 and CD68+ as potential biomarkers target in cancer therapies .The prognosis of PC is variable. Overall survival rates are generally better than in most solid tumours, with 76 to 85% and 49 to 77% patients alive respectively at 5-year and 10-year follow-up , 53, 110The lack of a universally approved staging system for PC does not allow to offer a reliable prognostication system to patients. Observations on the prognosis of PC mainly derive from longitudinal single-institution studies and small series , 145. ScThe best prognosis is tied to complete tumour resection at the initial surgery, with survival rates up to 90% at 5 years and 67% at 10 years . In studIndependent negative factors for survival have also been age, sex, distant metastases, time interval to first recurrence, higher calcaemia at recurrence, use of multiple calcimimetic agents, amount of recurrences in the neck, simple parathyroidectomy as initial surgery, inability to achieve complete tumour resection, and tumour DNA aneuploidy , 53, 110Despite its rarity, in the presence of HPT showing severe hypercalcemia, large cervical mass and concomitant renal and skeletal disease, PC should be suspected. Complete surgical resection at the earliest possible time is the optimal treatment, and patients with a suspicion of PC should be considered for referral to a Centre dedicated to PT surgery, to improve outcomes and offer the best chance of cure. Further multi-centric studies are needed to standardize surgical management of PC with the aim to improve results.


Her symptoms were resolved immediately after decompression surgery. Following a review of previous cases, we suggest that consecutive MRI scanning may support the diagnostic process for LFH.Ligamentum flavum hematoma (LFH) is a rare cause of spinal nerve compression. This condition remains challenging to diagnose using MRI due to the changing intensity of the hematoma on imaging. The aim of this study was to describe the patient with LFH who had a succession of MRI scans carried out. We report on a 71-year-old woman with a mass at L4/5 and decompression surgery was performed for her left leg symptom. She had MRI carried out in a previous hospital and also had MRI again in our hospital. In a 2 Various pathological changes of the ligamentum flavum have been identified, including hypertrophy, calcification, ossification, and cyst formation that may compress the spinal cord. Ligamentum flavum hematoma (LFH) is a rare cause of spinal nerve compression , 2. ArouA 71-year-old woman was referred for evaluation of back pain and worsening left lower extremity pain, which included neurogenic claudication. She gave a history of a fall from standing height, with onset of low back pain. Around a month later, her left leg pain became a prominent feature, with a symptom duration of approximately five months at the time of injury. She did not experience lumbar epidural or intrathecal injections. She reported no history of fever and no difficulty passing urine. Significant medical history included mild hypertension, of note, and there was no history of malignancy and no history of use of anticoagulant drugs. Both platelet count and prothrombin time were in the normal range. On examination, there was full power and symmetrical reflexes in both lower extremities. Patchy reduction in sensation to the left lower limb was noted. She was given a left L5 nerve root block which was only effective for 3 days. The patient and/or her families were informed that data from the case would be submitted for publication and gave their consent.nd MRI with Gd. On the 2nd MRI of the same area  had been performed prior to evaluation (4 months after symptom onset) in a previous hospital . The MRI Figures , after a Figures  and the  Figures . There w Figures . Her symThe patient underwent surgery for decompression of the spinal canal and resection of the lesion, which at this stage was presumed to be an epidural tumour. After L4/5 partial laminectomy, the solid blackish ligamentum flavum was visible and firmly adherent to the dural sac at L4/5 posteriorly . After rOur patient recovered rapidly after surgical removal of the lesion and the previously reported patients also recovered immediately after surgery. To our knowledge, 28 cases of lumbar LFH , 2, 4–24nd MRI was extended than the 1st without changing her symptoms, suggesting that oxyhemoglobin in hematoma got more, not further bleeding. This oxidation procedure is equal to the acute phase of common hematoma, indicating that the speed of hemoglobin oxidation in LFH was very slow.The mechanism of development of LFH has not yet been identified , 20, 25.The biggest challenge faced by clinicians is the difficulty in the diagnosis of this condition, as differentiating LFH from epidural tumours using MR imaging is considered virtually impossible. Keynan et al.  reportedWe propose that differences between the first and second MRI scans can help in diagnosing LFH. However, at the present it is not clear what the appropriate time period between the first and second MRI scans should be. Such an approach may not be possible if the patient had severe symptoms requiring emergency surgery. Nevertheless, this is the first study to highlight the potential importance of differences between the first and second MRI for LFH diagnosis. Carrying out MRI scans in succession may support the diagnostic process for LFH.Our patient with lumbar LFH underwent decompression surgery and her symptoms immediately resolved. Following a review of previous cases, we suggest that consecutive MRI scanning may support the diagnostic process for LFH.


Chronic contained rupture is a subtype of an abdominal aortic aneurysm rupture. Its diagnosis is sometimes difficult due to lack of typical symptoms. We would like to report the challenge of diagnosing chronic contained rupture of abdominal aortic aneurysm with a retroperitoneal tumor.A 60-year-old man reported perceived lower abdominal pain 7 months earlier that spontaneously remitted. A contrast-enhanced computed tomography (CT) indicated an abdominal aortic aneurysm and a mass lesion surrounding the abdominal aorta and iliac arteries. Fluorine-18-fluorodeoxyglucose positron emission tomography (FDG-PET) showed an increased accumulation of FDG in the margin of the lesion, indicating a retroperitoneal tumor. A CT-guided biopsy revealed only retroperitoneal fibrous tissue with chronic inflammation. We were thus unable to reach a definitive diagnosis. At 1 month after the initial examination, intermittent claudication was newly observed. A follow-up contrast-enhanced CT scan revealed abdominal aortic occlusion. Mass resection and bypass surgery were performed for diagnosis and treatment. Intraoperative and pathological findings led to the diagnosis of chronic contained rupture of an abdominal aortic aneurysm. The patient was discharged 19 days after surgery.The mass peripheral to the abdominal aorta should be considered the possibility not only of tumor but also of chronic contained rupture of an abdominal aortic aneurysm. Chronic contained rupture of an abdominal aortic aneurysm (CCR-AAA) is a well-known subtype of a AAA rupture. Its chronic course precludes typical clinical findings as seen in a AAA rupture, such as severe abdominal pain or hemodynamic changes. Moreover, although contrast-enhanced computed tomography (CT), fluorine-18-fluorodeoxyglucose positron emission tomography (FDG-PET), and magnetic resonance imaging (MRI) aid diagnosis, they fail to distinguish CCR-AAA from a retroperitoneal tumor . Herein,The patient was a 60-year-old man. Abdominal ultrasonography indicated that he had an abdominal mass. He reported having perceived lower abdominal pain 7 months before the initial examination, but it spontaneously remitted. The patient had no fever nor any history of conditions such as hypertension. A blood test revealed that he did not have anemia, thrombocytopenia, or coagulation abnormalities. The patient demonstrated slightly elevated levels of carcinoembryonic antigen (4.7 ng/ml) and soluble interleukin-2 receptor (603 U/ml), tumor markers that are elevated in gastrointestinal cancers and malignant lymphoma. Contrast-enhanced CT showed a 33× 31 mm abdominal aortic aneurysm and a 106 × 81 mm mass peripheral to the abdominal aorta. The mass did not feature a contrast effect, and its margin was enhanced in the venous phase  known AAA; 2) previous pain symptoms; (3) stable condition and normal hematocrit; 4) a CT scan showing a retroperitoneal hematoma; and (5) pathological confirmation of an organized hematoma [ known AA previous a CT scaThe fact that CCR-AA is a rare condition further confounds diagnosis. Although there have been several reported cases in recent years of CCR-AAA with vertebral invasion, we could find only one reported case of CCR-AAA with abdominal aortic occlusion . In the In the present case, the abdominal aorta was confirmed to be patent at the initial examination, and there were no stenotic lesions. However, a detailed examination at 1 month showed that occlusion had occurred in the course of CCR-AAA. Although antiphospholipid syndrome co-occurs in some cases, acute occlusion of the abdominal aorta often occurs due to embolization of intracardiac thrombi associated with atrial fibrillation , 10. TheA ruptured abdominal aortic aneurysm is typically treated with open repair, although endovascular aneurysm repair has also recently been reported to be effective . On the For patients who present with a mass peripheral to the abdominal aorta, it may be necessary to conduct detailed examinations to discern not only the possibility of a tumor but also of infection and CCR-AAA.


Acute pancreatitis is an inflammatory disorder of the pancreas, and its correct diagnosis is an area of interest for clinicians. In accordance with the revised Atlanta classification, acute pancreatitis can be diagnosed if at least 2 of the following 3 criteria are fulfilled: abdominal pain; serum lipase (or amylase) activity at least 3 times the upper limit of normal; or characteristic findings of acute pancreatitis on contrast-enhanced computed tomography (CT) or, less often, magnetic resonance imaging or transabdominal ultrasonography. Diagnostic imaging is essential in patients with no or slight enzyme elevation. If enzymes are normal in cases with abdominal distension, there is clinical doubt about the diagnosis of acute pancreatitis, so an early CT scan should be obtained and other life-threatening disorders excluded.A 50-year-old male presented with a 1-day history of abdominal bloating and distension. On physical examination, abdominal bulging and mild epigastric tenderness were detected. Laboratory evaluation showed normal amylase and lipase. There was no abnormality on abdominal ultrasound or CT of the abdomen and pelvis. On the fourth day of admission, CT of the abdomen and pelvis showed a hypodense lesion in the pancreas surrounded by a moderate amount of peripancreatic fluid.In accordance with the revised Atlanta classification, acute pancreatitis was diagnosed, based on the presence of abdominal pain, and the results of the CT scan of the abdomen and pelvis.The patient was treated with fasting, gastrointestinal decompression bowel rest, intravenous rehydration, and somatostatin.After 2 days of treatment, his abdominal distension was significantly relieved, and the patient was discharged on the seventh day of admission. At the 3-month follow-up, the patient had no recurrence of pancreatitis.This case of abdominal distension could not be explained by common causes, such as ascites, bowel edema, hematoma, bowel distension, or ileus, which led us to suspect pancreatitis. We present a unique case of acute pancreatitis with abdominal distension, normal lipase and amylase, and no findings consistent with acute pancreatitis on imaging . With early diagnosis and supportive treatment, the patient recovered uneventfully.Acute pancreatitis, an inflammatory disorder of the pancreas, is the leading cause of admission to hospital for gastrointestinal disorders in the United States and many other countries.2A 50-year-old male presented with a 1-day history of abdominal bloating and distension, without nausea, vomiting, or diarrhea, and with normal defecation. He denied any history of diabetes or prediabetes, obesity, abdominal trauma, gallstones, and any surgical history. On physical examination, abdominal bulging and mild epigastric tenderness was detected. On the first day of admission, laboratory evaluation showed a normal hematocrit, amylase, lipase, glycerin triglyceride, total protein, and total bilirubin Table . We ther3 Bloating and distension may produce significant distress.,5 Bloating and abdominal distension may be produced by different mechanisms, sometimes coinciding in the same individual. Recognizing the predominant operative mechanism(s) in a given patient can help plan effective treatment. To avoid mishaps, organic bloating and distension should always be considered first and appropriately assessed. A mechanism-based management of bloating and distension is ideal but elucidating key operational mechanisms in individual patients is not always feasible. Some clues may be gathered through a detailed dietary history, by assessing bowel movement frequency and stool consistency, and special imaging techniques to measure abdominal shape during episodes of distension. In severe, protracted cases it may be appropriate to refer the patient to a specialized center where motility, visceral sensitivity, and abdominal muscle activity in response to intraluminal stimuli may be measured. In this case, there was no nausea, vomiting, or diarrhea, defecation and vent was normal, computed tomography (CT) of the abdomen and pelvis showed no fluid in the abdominal cavity, no swelling in the pancreas, no bowel edema, no hematoma, bowel distension, or ileus. The abdominal distension of this patient could not be explained by common causes, leading us to suspect pancreatitis.Bloating as a symptom and abdominal distension as a sign, are both common functional-type complaints and are challenging to manage effectively. Causes of abdominal distension are related to an increase in intra-abdominal volume: ascites, bowel edema, hematoma, bowel distension, or ileus. and the incidence is rising globally. Acute pancreatitis is among the most common gastrointestinal conditions requiring acute hospitalization. Gallstones and/or biliary sludge are the most prevalent (approximately 40%–50%) cause of acute pancreatitis, alcohol (approximately 20%) is the second most frequent cause of acute pancreatitis, while less frequent causes of acute pancreatitis include medication, endoscopic retrograde cholangiopancreatography, hypercalcemia, hypertriglyceridemia, surgery, and trauma.,11The annual incidence of acute pancreatitis ranges from 13 to 45 per 100,000 people, Importantly, pancreatic enzyme concentrations on admission are not associated with disease severity. The disease can be serious, even fatal, although the enzymes are only slightly increased , so diagnostic imaging is essential in patients with a no or slight enzyme elevation. Enzymes were normal in this case with abdominal distension, introducing clinical doubt about the diagnosis of acute pancreatitis. An early CT scan should be obtained in such cases, and other life-threatening disorders excluded. Computed tomography (CT) of the abdomen and pelvis showed no fluid in the abdominal cavity, and no swelling in the pancreas and no expansion of gastrointestinal tract in this case.Clinicians are interested in confirming the diagnosis of acute pancreatitis and excluding differential diagnoses. In accordance with the revised Atlanta classification, acute pancreatitis can be diagnosed if at least 2 of the following 3 criteria are fulfilled: abdominal pain ; serum lipase (or amylase) activity at least 3 times the upper limit of normal; or characteristic findings of acute pancreatitis on contrast-enhanced CT or, less often, MRI or transabdominal ultrasonography. Patients with mild acute pancreatitis  usually do not need pancreatic imaging and are frequently discharged within 3–7 days of onset of illness. Supportive care with the use of intravenous fluid hydration is a mainstay of treatment for acute pancreatitis in the first 12–24 hours. Early fluid resuscitation is required to correct intravascular depletion in order to reduce morbidity and mortality associated with acute pancreatitis. This patient was discharged on the seventh day of admission. At the 3-month follow-up, the patient had no recurrence of pancreatitis. There are no similar case reports/studies of which we are aware.Acute pancreatitis causes a local and systemic inflammatory response syndrome. Although the majority of patients have a mild disease course, around 20% will develop moderate or severe pancreatitis, with necrosis of the (peri)pancreatic tissue and/or (multiple-)organ failure.4Bloating and abdominal distension are both common functional-type complaints, which produce significant distress and are challenging to manage effectively. When abdominal distension cannot be explained by common causes, such as ascites, bowel edema, hematoma, bowel distension, or ileus, we suspected pancreatitis. This case is a retrospective study and the data may not be comprehensive.www.liwenbianji.cn/ac), for editing the English text of a draft of this manuscript.The authors thank Marion Barnett, BSc, from Liwen Bianji, Edanz Editing China (Conceptualization: Yuan-Yu Wang, Wei-wei Jin, Yi-Ping Mou.Data curation: Zhen-Yuan Qian, Wei-Wei Jin, Ke Chen.Investigation: Xiao-Dong XuMethodology: Xiao-Dong Xu,Project administration: Yuan-Yu Wang, Wei ZhangSupervision: Xiao-Dong Xu.Writing – Original Draft: Yuan-Yu Wang.Writing – Review & Editing: Yuan-Yu Wang, Yi-Ping Mou, Wei Zhang.


Large cell neuroendocrine carcinoma (LCNEC) is a rare but distinct entity of nasal cavity carcinomas. Only a very few cases have been reported in the nasal cavity. Its treatment is not well established. We report the case of a LCNEC in a 70 years old patient who presented with right nasal obstruction and epistaxis since 2 months. Diagnosis was confirmed by histological and immunohistochemical study. The patient underwent complete endoscopic removal of the tumor combined to adjuvant chemoradiotherapy. After 6 month follow-up, the patient was in complete clinical and radiological remission. We will discuss in this paper the various epidemiology, clinical features, pathological findings, differential diagnosis, and evolution of treatment of this uncommon malignancy in the light of current knowledge. Optimal treatment strategies are yet to be determined for this rare malignancy with poor prognosis including surgery and chemoradiotherapy. Neuroendocrine carcinoma is relatively uncommon in the sinonasal region. Very few cases of sinonasal large cell neuroendocrine carcinoma have been reported till date. In recent years, this variant has been recognized as a distinct entity. Otherwise, no agreement for adequate management has been reached. These aggressive tumors are requiring multimodality treatment that includes surgery as initial treatement and chemoradiotherapy. The focus of this paper is to report such extremely rare case and highlight recent developments in this pathology.Mr F.B a 70-year-old male patient presented in our institution because of the occurrence of a right epistaxis. First of all, the patient is not smoking and reported an aneurysm of the abdominal aorta surgically treated by prosthesis under plavix. The beginning of the symptomatology goes back to 2 months before with right nasal obstruction of progressive onset, associated with right epistaxis and bloody rhinorrhea with right chronic eye watering. Nasal Endoscopy examination revealed a pinnkish burgeoning mass bleeding on contact and filling the right nostril vestibule. The patient didn't presents neurological signs nor cervical lymph nods. Otherwise, ophthalmologic examination found normal visual acuity and ocular mobility on both sides. Sinonasal computed tomography (CT) found a right nasal process enhanced after injection of contrast product with relatively little washing at the late time. Otherwise, there is no extension involvement at the level of the cavum and the pterygo palate fossa. This finding found also a crenate appearance of the posterior nasal mucosa especially of the middle turbinates and contralateral inferior turbinate with a left deviation of the nasal septum with nasal spur . Nasosin2 or 10 high power fields. Although not used for grading or prognosis, Ki-67 labeling index is >20% [Neuroendocrine carcinomas (NECs) of the head and neck are a rare entity, regardless of differentiation or subtype, accounting for approximately 5% of sinonasal malignancies . Larg Ce is >20% , 25. The is >20% ; kadish Differential diagnoses include sinonasal undifferentiated carcinoma (SNUC), malignant melanoma, and lymphoma. Rarity of cases and overlapping morphologic and immunohistochemical features pose a conceptual challenge in the diagnosis of LCNEC and its differentiation from SNUC and high-grade olfactory neuroblastoma (ONB) . AggressLarge cell neuroendocrine carcinoma of the nasal cavity is an extremely rare and destructive neoplasm. Clinical presentations of this uncommon malignancy include non-specific symptoms. Aggressive trimodality therapy seems to be the most effective approach to improve locoregional control and survival.The authors declare no competing interests.


Thyroid carcinoma is the most common endocrine neoplasia. Differentiated thyroid carcinomas (DTCs) represent the majority of cases, which usually follow an indolent clinical course with low mortality rates. The authors describe two cases of well DTC without classic histological poor prognosis features, presenting as extensive and unresectable osteolytic bone metastases. DTCs are considered harmless tumours, due to their benign and silent behaviour. The authors want to underline the importance of clinical awareness during follow-up in cases of DTC, which can be aggressive in presentation and behaviour. Timely identification and diagnosis of these tumours are essential for prompt treatment initiation and improvement of overall survival. The most common endocrine neoplasia is the thyroid carcinoma, with a rapidly increasing incidence worldwide –3. The mWhen distant metastases occur, the bone is the second most frequently affected site . The incThe authors report two cases of DTC without significant microscopic adverse features presenting as lytic bone metastases.A 62-year-old male presented with refractory sacral coccygeal pain. The patient had past medical history of type 2 diabetes mellitus (treated with linagliptin/metformin), nontreated high blood pressure, right-sided hemiparesis following meningitis in childhood, nephrolithiasis, and smoking history. The pelvic computed tomography (CT) revealed a 9x7.5x9 cm bulky mass in the sacrum with locally increased soft tissue density, causing extensive lytic lesions of the sacred vertebrae and extending to the left iliac bone, suggestive of chordoma. The patient underwent total sacrectomy with partial excision and reconstruction of the left iliac bone. The anatomopathological examination revealed sacrococcygeal involvement by a thyroid carcinoma, as verified by immunohistochemical staining for thyroglobulin and TTF-1, predominantly papillary (follicular variant), however with foci of nondifferentiated (insular) carcinoma Figures . ConsequA 64-year-old male presented with pain in the left iliac region for 6 months. His past medical history was significant for gastric peptic ulcer disease , nephrolithiasis, and hyperuricemia. At admission a poorly defined mass on the left posterior iliac crest was palpable. The patient underwent a pelvic CT, which revealed a 9 cm lytic lesion of left iliac bone with soft tissue involvement . A biopsThe authors present two rare cases of well DTC without significant histological poor prognosis features presenting as osteolytic bone metastases. DTCs, in particular those that are small and organ confined as in the above-mentioned cases, are often characterized by a slowly progressive course with a 5-year survival rate of 98.2% .However, the bone is the third most common site of metastatic cancer of unknown origin, particularly of the spine, followed by the pelvis and long bones . In suchThe described cases are unusual due to the aggressive presentation in the absence of previous poor prognosis anatomopathological features of the primitive tumours. In the first case report, beyond multifocality no other unfavourable features were present, predicting a low risk DTC . HoweverNevertheless, the factors predicting a worse outcome in DTCs also include demographic features. There is established evidence that male sex and increasing age are important risk modifiers . The latAlthough DTC has often an indolent course and usually poses minimal risk to human health, without apparent symptoms or adverse impact from their disease burden for many years, the cases mentioned above mean to underline the notion that patients can have an aggressive presentation and behaviour despite relatively “benign” histological features. In order to complement the histological study, it would be interesting to design a molecular study of the described tumours in an attempt to identify mutations that could serve as predictors for a more aggressive behaviour. DTCs are heterogeneous with different molecular signatures and variable presentation. A variety of molecular markers is involved in the processes of tumorigenesis, tumour progression, and development, including focal mutations, rearrangements, epigenetic changes of growth factors and their receptors, angiogenesis mediators, cellular regulators, and adhesion molecules. Because overall survival is improved by complete resection of the primary tumour and its metastases, early diagnosis and treatment are crucial.DTC are commonly tumours with a benign clinical course. However, patients presenting with seemingly innocent features may have aggressive tumours with bone metastization upon diagnosis. Prompt treatment initiation is crucial for patient survival. The authors want to underline the necessity of high clinical awareness and close follow-up to decrease morbidity and mortality in these patients. Further studies are needed to disclose clinical and histological patterns of poor prognosis.


Clitoral hypertrophy is caused by disorders of sex development and it is observed from birth in most cases. We encountered a patient in whom normal morphology at birth may have acquired deformity and hypertrophy. The patient was a 10-year-old girl with a chief complaint of pudendal deformity. The clitoral hood was enlarged and the clitoris size was 8 x 5 mm on the first examination. Various tests were performed. Sex chromosome or hormonal abnormalities and tumorous lesions were not detected, and the ovaries, uterus, and vagina were normal, indicating that disorders of mullerian development were negative. In surgery, reconstruction of the vulva was performed following the Marberger method. The present case may have been a very rare case of acquired hypertrophy of unknown origin. Clitoral hypertrophy is caused by disorders of sex development and it is observed from birth in most cases. We encountered a patient in whom normal morphology of the clitoris at birth may have acquired deformity and hypertrophy. We report a case with some discussion.A 10-year-old girl visited our affiliated hospital, complaining of pudendal deformity. The patient was born at 39 weeks of gestation by normal delivery as the second child, and the birth weight was 3,144 g. There was no disorder in the course of pregnancy in her mother. Intake of androgenic medicine or the disorders of ovaries and uterus was not observed by a periodic medical examination. No pudendal deformity was clearly observed at birth, but lateral asymmetry of the pudendal region was noticed at about 4 years old. A child care worker pointed out that she pressed her heel to the crotch while sitting on her folded legs. After 5 years old, her mother confirmed that her clitoral hood clearly hypertrophied. After entering primary school, a teacher in charge pointed out that she pressed her crotch to a chair or bar, and the mother told her to stop it, but she repeated this behavior every day. When she strongly wanted to be absent from an overnight school trip at 9 years old, the mother brought her to the Pediatric Department. Various tests were performed suspecting disorders of sex development (DSD). On the first visit, the height was 132 cm and the body weight was 26 kg. The clitoral hood was enlarged. The appearance was similar to the vulva in children with congenital adrenal hyperplasia, and the clitoris size was 8 x 5 mm. Labial fusion or adhesion was not detected, and the urinary tract and vagina were open at the normal positions. No masculinization, such as acne and polytrichosis, was noted . Intake Based on the above examination and test findings, DSD was considered negative. The patient was diagnosed with clitoral hood enlargement and referred to our department to undergo clitoral hood reduction. For surgery, a longitudinal incision was designed for the dorsal side in order to resect the clitoral hood by cut and try. In the clitoral region, the clitoral hood and corpus cavernosum were dissected through an inverted V-shape incision. The volume of the exposed corpus cavernosum clitoridis was reduced while conserving the neurovascular bundle, following the Marberger method . The cliDiseases causing clitoral hypertrophy include congenital adrenal hyperplasia, true hermaphroditism, mixed gonadal dysgenesis, and congenital idiopathic clitoral hypertrophy, and the 3 former diseases account for 95% of cases. All these are congenital and deformity is present since birth. Clitoral hypertrophy associated with these diseases is severe in many cases , and manIn contrast, no surgical treatment of idiopathic clitoral hypertrophy and nonprogressive simple female hermaphroditism with relatively mild hypertrophy without accompanying complication has been reported . It is rAlthough clitoral hypertrophy is not a severe disease with regard to the life prognosis, it has a significant influence on patients and their families and impairs the QOL of females. The clitoris is present at the apex in the anterior vaginal vestibule, and it is esthetically problematic even in cases with mild hypertrophy. It caused dyspareunia in some reported cases , 8. SincIn our patient, pudendal abnormality was not clearly noted at birth but deformity occurred with growth. Sex chromosome was 46, XX, no abnormality was detected in hormones on blood testing, tumorous lesions were not detected on imaging, and no anatomic abnormality was observed in the uterus, ovary, vagina, urinary meatus, or vaginal opening. Behavior of pressing the crotch to a chair or bar was frequently noted since infancy, but it was unlikely that this chronic stimulation caused hypertrophy.Generally, clitoral hypertrophy is defined as a clitoris with a transverse diameter of 7 mm or larger . The siz


Caseous calcification of mitral annulus (CCMA) is a rare variant of mitral annular calcification. Previously thought to have been a benign condition, CCMA may be a potential source of cardioembolic stroke. We present a case of a 40-year-old man with end-stage renal disease on hemodialysis and hypertension who presented with acute onset of visual blurring and headache and was diagnosed with cardioembolic stroke secondary to CCMA. It is imperative for the echocardiographers to recognize the typical features of CCMA and to differentiate it from other common causes for appropriate intervention. Caseous calcifications of mitral annulus (CCMA) is a rare form of mitral annular calcification (MAC), with a prevalence of 0.6%-2.3%. It is typically diagnosed via an echocardiographic imaging . Such ecA 40-year-old man with a history of end-stage renal disease on hemodialysis, hypertensive cardiomyopathy, and poorly controlled hypertension presented to the emergency department with a sudden onset of 48-hour right visual blurring and headache. On physical examination, he was alert, oriented to time, place and person, with a blood pressure of 200/124 mmHg, and a heart rate of 88 beats/minute. Neurologic examination was only significant for decreased right visual acuity. The electrocardiogram revealed normal sinus rhythm.Computed tomography of the head revealed focal area of hypoattenuation in the left cerebellar hemisphere Figure . Magnetic resonance imaging of the brain revealed multiple new regions of restricted diffusion within the left frontal, parietal and occipital lobes, consistent with an embolic stroke Figure . A carotid duplex ultrasound was unremarkable for carotid artery stenosis. A two-dimensional transthoracic echocardiography revealed a large calcified mass measuring 24.5 mm x 16.0 mm  and high-intensity atorvastatin 80 mg daily were initiated. Surgical excision of the CCMA lesion was considered but not performed immediately due to the potential risk of hemorrhagic conversion of the ischemic stroke. We described a case of a young adult presenting with right visual blurring and headache and was found to have CCMA as an unusual cause of cardioembolic stroke. Mitral annular calcification (MAC) is a chronic degenerative process occurring within the cardiovascular fibrous skeleton and mainly involves the posterior mitral annulus . CCMA ocThere is currently no consensus on the optimal management of CCMA. However, a conservative management strategy, which involved a follow-up echocardiography of the CCMA lesion is usually preferred. CCMA may be a dynamic process as it can resolve spontaneously or recur even after surgical excision , 4-5. SuThe differential diagnosis of intracardiac lesion remains broad. It is prudent for echocardiographers, cardiologists, and cardiothoracic surgeons to maintain a high index of suspicion and be familiar with the echocardiographic features of CCMA to avoid diagnostic errors as clinical management varies widely.


Ameloblastoma is a slow-growing neoplasm of the jaw, for which the standard treatment is surgical removal of the lesion with high recurrence rates and elevated morbidity. Systemic therapy is not established in the literature.We present a case of a 29-year-old woman diagnosed with an ameloblastoma of the left mandible who had been subjected to several surgical procedures over twenty years due to multiple local recurrences. Molecular testing revealed a BRAF V600E mutation, and vemurafenib was started. She experienced complete resolution of symptoms related to the disease, and image scans evidenced continuous shrinkage of the neoplastic lesion after eleven months of therapy.This is the first report showing clinical benefit and radiological response with vemrafenib for recurrent ameloblastoma. Targeted therapy addressing BRAF V600E mutation has the potential to change clinical practice of this rare disease. Ameloblastoma is a locally invasive, slow-growing odontogenic neoplasm arising in the jaw, which accounts for 13–58% of odontogenic tumors [Recently, elucidations of the molecular pathways that lead to development of the disease have revealed new treatment possibilities. By 2014, several papers had reported alterations in the mitogen-activated protein kinase (MAPK) cascade, and the activating mutation BRAF V600E was found in 40–80% of cases . MutatioThese intriguing data led to the assumption that targeted therapy against these pathways may be clinical useful. Indeed, two studies have demonstrated in vitro sensitivity of BRAF inhibitors in ameloblastoma cells harboring BRAF V600E mutation , 5, and This case describes a 29-year-old woman who was first diagnosed with ameloblastoma as a child at 7 years old. The lesion originated in the ascending branch of the left mandible, and the first surgical procedure was performed in March 1997 followed by disease recurrence in April 1999. A second resection was performed in May 1999, and during the next 16 years, the patient underwent several surgical approaches that were consistently followed by disease recurrence. Some of the procedures were conservative surgeries, but others were radical procedures that left her with several deforming scars. She presented to our clinic in January 2015 with a new magnetic resonance imaging (MRI) that evidenced a right, triangular aspect, paracellarlesion, extending to the homolateral cavernous sinus (13 × 9 mm), which was suspected to be a residual lesion that would have achieved the cavernous sinus by contiguity growth after several surgeries. Her last surgery had been performed in April 2014 and was followed by local radiotherapy in May 2014. She was asymptomatic and not willing to undergo a new invasive procedure. She decided to be followed without further intervention.For the next 18 months, she was clinically stable and asymptomatic, but she returned in July 2016 with intense pain on the right side of her face that required multiple hospital visits for intravenous analgesia. MRI revealed an extensive heterogeneous lesion with contrast enhancement centered on the right cavernous sinus anterior to the cavus of Meckel and exhibiting anterior extension towards the upper orbital fissure (measuring approximately 19 × 15 × 16 mm). To identify new treatment possibilities, we decided to perform a new biopsy and conduct molecular testing , and her last MRI performed in September 2017 evidenced a reduction of the lesion size (18 × 13 × 14 mm)  and epithelial growth factor receptor (EGFR), which lead to the activation of downstream RAS, RAF, MEK and ERK. The BRAF V600E mutation leads to constitutive activation of the BRAF protein and is well known to be involved in the carcinogenesis of other histologies, such as melanoma and colorectal cancer . The HedIn 2014, alterations in the MAPK pathway, especially BRAF mutations, were described by different authors for ameloblastoma tumors. Kurppa et al. reported BRAF V600E mutations in 63% of their samples . Brown eThe molecular characteristics of ameloblastoma also seem to be correlated with clinicopathological features. Tumors harboring the BRAF mutation seem to occur more frequently in the mandible and younger patients, whereas SMO mutations are more associated with tumors arising in maxillary of older patients , 12–14. Data concerning the aggressiveness of disease harboring the BRAF mutation are conflicting. Some studies have observed a higher disease-free survival (DFS) in those harboring the BRAF mutation in comparison to BRAF wild-type tumors , 5, whilData supporting the clinical benefit of BRAF inhibitors for patients with ameloblastoma harboring the BRAF mutation are very scarce. Two studies have reported in vitro sensitivity of vemurafenib for ameloblastoma cell lines harboring V600E mutations , 5. ClinDespite being very preliminary data, these findings suggest that the molecular features of ameloblastoma could be useful for the selection of targeted therapy. To the best of our knowledge, we have described the first case of ameloblastoma with BRAF V600E that experienced clinical benefit and a radiological response with vemurafenib. Further prospective studies addressing the hole of BRAF and BRAF/MEK inhibition are needed to clarify the best treatment regimen for these patients, and larger molecular studies are warranted to clarify the roles of other mutations outside the MAPK cascade, such as the SMO mutation involved in the Hedgehog cascade , 5.


We report a patient for whom a colonic stent was successfully used to treat colonic stenosis secondary to acute pancreatitis.A 70-year-old male presented with epigastric pain. A choledocholith and bile duct dilatation were found on abdominal computed tomography scan. Endoscopic retrograde cholangiopancreatography was performed and a common bile duct stent was placed. Ten hours after stent placement, severe epigastric pain developed. Contrast enhanced abdominal computed tomography scan revealed increased density of fat tissue around the pancreas. He was diagnosed with severe acute pancreatitis and treated in the intensive care unit. On the twenty-eighth hospital day, he vomited. His abdomen was distended and tender to palpation. Contrast enhanced abdominal computed tomography scan revealed stenosis of the descending colon and proximally dilated colon and small bowel. He was diagnosed with colonic stenosis secondary to acute pancreatitis. A colonic stent was placed in the descending colon. Eight months after this episode, elective subtotal colectomy was performed. The postoperative course was unremarkable.The overall documented leak rate for segmental colectomy with or without on-table lavage following large bowel obstruction is about 4%. In addition, in the acute phase of severe acute pancreatitis, inflammation makes surgery difficult. Use of enteric stents in patients with pancreatitis could be used as a temporizing measure until the inflammation and obstruction improve.Colonic stenting is useful as a bridge to surgery in the management of large bowel obstruction. For stenosis, they are mainly placed for malignant lesions. We report a patient for whom a colonic stent was successful for colonic stenosis secondary to acute pancreatitis. This work has been reported in line with the SCARE criteria .2A 70-year-old male presented with a one-day history of epigastric pain. His vital signs were normal. Abdominal examination showed epigastric tenderness to palpation and a positive Murphy sign. Laboratory studies revealed elevated serum total bilirubin (1.95 mg/dL). A choledocholith and bile duct dilatation were found on abdominal computed tomography (CT) scan. He was diagnosed with choledocholithiasis. Endoscopic retrograde cholangiopancreatography showed a choledocholith and a common bile duct stent was placed. Ten hours after stent placement, he developed severe epigastric pain. Abdominal examination showed epigastric tenderness on palpation without rebound tenderness. Laboratory studies showed an elevated serum lipase level (3345 IU/L). Contrast enhanced abdominal CT scan revealed increased density of fat tissue around the pancreas . His ageOn the twenty-eighth hospital day, he vomited two times. His abdomen was soft, distended and slightly tender to palpation. Contrast enhanced abdominal CT scan revealed stenosis of the descending colon near the splenic flexure and proximal dilated colon and small bowel . ColonosEight months after this episode of severe acute pancreatitis elective subtotal colectomy was performed, instead of a left colectomy, for a safer anastomosis. There were few intraperitoneal adhesions because the inflammation had resolved over eight months, and the operation proceeded without difficulty. The postoperative course was unremarkable and he was discharged without complications. The specimen showed stenosis of the descending colon without malignancy .Fig. 4Th3Colonic complications from acute pancreatitis are rare and are associated with mortality and morbidity ,3. They Over　the　last　two　decades,　self-expanding　enteric　stents　have　gained in popularity and have therapeutic utility for strictures, obstruction, fistulae, and perforations of the gastrointestinal tract ,7. StentTechnical advances have allowed the use of stents in the splenic flexure , but theThe overall documented leak rate for segmental colectomy with or without on-table lavage following large bowel obstruction is about 4% . In addi4Large bowel obstruction is a rare complication of acute pancreatitis but one that clinicians should be aware of due to its high morbidity. Colonic stenting is useful as a “bridge to surgery” in the management of large bowel obstruction. However, it needs further evaluation in this benign setting.Authors had no sources of funding.IRB/Ethics Committee ruled that approval was not required for this study.Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.The work presented was carried out in collaboration between all authors. JK, AKL, SF and TK defined the research theme, discussed analyses and approved the final version to be published. JK analyzed the data, interpreted the results and wrote the paper.There is no need to register because it is a case report.Jiro Kimura.Not commissioned, externally peer-reviewed.All authors have no conflict of interest.


We report here an extremely rare case of hepatic sclerosing hemangioma mimicking a biliary cystadenocarcinoma. A previously healthy 39-year-old woman was referred to our hospital because of a large tumor in the liver. Abdominal computed tomography revealed early peripheral ring enhancement in the arterial phase and slight internal heterogeneous enhancement in the delayed phase. Magnetic resonance imaging revealed a tumor with low intensity in the T1-weighted image and very high intensity in the fat-saturated T2-weighted image. The patient underwent hepatectomy for a possible malignant liver tumor. Grossly, the tumor appeared as a white, solid, and cystic mass (weighted 1.1 kg and measured 170×100×80 mm) that was elastic, soft, and homogeneous with a yellowish area. Histological examination showed that the tumor mostly consisted of fibrotic areas with hyalinization. The typical histology of cavernous hemangioma was confirmed in part, and the tumor was diagnosed as a sclerosing hemangioma with predominancy of the sclerosed area. A review of 20 cases reported previously revealed that only 2 (10%) patients were diagnosed as having sclerosing hemangioma preoperatively. Hemangioma is the most common type of benign hepatic tumor . HemangiA previously healthy 39-year-old woman was referred to our hospital because of a cystic lesion in the liver demonstrated by abdominal ultrasonography (US). Laboratory studies, including liver function tests, and tumor markers were also within the normal limits. Serological markers for hepatitis B or C viral infection were undetectable. Abdominal US revealed a well demarcated, heterogeneously low-echoic mass 170 mm in diameter in right lobe of the liver. Abdominal computed tomography (CT) during hepatic arteriography (CTHA) revealed early ring enhancement in the peripheral area in the arterial phase and slight internal heterogeneous enhancement in the delayed phase Figures . MagnetiThe patient underwent posterior sectionectomy. Intraoperative examination revealed a relatively soft dark red tumor ; the resHepatic sclerosing and sclerosed hemangiomas are very rare benign tumor, but the mechanism responsible for the degenerative changes in hepatic cavernous hemangioma has not been well clarified. Makhlouf and Ishak have reported that there are distinct clinical and histological differences between sclerosing and sclerosed hemangiomas; they suggested that recent hemorrhages and hemosiderin deposits, rich in mast cells are present in sclerosing hemangioma . In the Hepatic sclerosing hemangiomas are caused by degenerative changes such as thrombus formation, necrosis, and scar formation within liver cavernous hemangioma, and such varieties of pathological characteristics make precisely radiological diagnosis very difficult . On the The use of surgical resection for hepatic sclerosing hemangioma is controversial. Most of the tumors reported previously were resected due to preoperative misdiagnosis as hepatic malignancies. Behbahani et al. have shown that knowledge of the appearance of atypical hemangioma and its inclusion in the differential diagnosis of hepatic lesions can alter patient management, being an important aspect to consider before invasive therapies are planned . On the Including the present case, only 20 cases of hepatic sclerosing hemangioma have been reported in the English literature with detailed information on the patients  3, 4, 77, 10–23 Sclerosing hemangioma is extremely difficult to differentiate from other hepatic tumors. Further studies in more patients with this tumor are needed to provide an appropriate differential diagnosis of patients of having atypical hemangioma. Therefore, it is critical to be familiar with sclerosing hemangiomas, which leads to preoperative biopsy or intraoperative frozen section to avoid unnecessary extended hepatic resection of this rare benign tumor. However, if tumor malignancy cannot be ruled out in spite of biopsy, hepatic resection should remain the choice for diagnostic surgery at present.


Surgery is the mainstay of treatment, but the extent is controversial.•Patient’s quality of life deserves attention when choosing the adequate surgical technic. th–7th decade, mostly in women. Surgery is the mainstay of treatment, but the extent is controversial.Anorectal malignant melanoma (AMM), is a rare and aggressive form of melanoma. Accounts for <2% of melanomas, and <2% of anal tumors. It is more frequent at the 682-year-old male, presented with rectal mass in the Emergency Room (ER). After local excision, pathology observed that the mass corresponded to AMM. Despite being stage I , a year later it presented with local recurrence and distant metastasis. The patient died 32 months after diagnosis.There is no optimal treatment, due to the lack of prospective studies. Wide local excision (WLE) has faster recovery, less post-operatory complications and similar survival rate compared to abdominal perineal resection (APR). The ideal surgical treatment is still controversial, especially in terms of extension: WLE AMM has poor prognosis. Recurrence and mortality are high, with a 5-year survival rate of less than 20% ,6 and a We present a case of a patient with amelanocytic malignant melanoma and the evolution of the disease.282-year-old Caucasian male, with history of prolapsed anal mass, was observed at the ER. Rectal examination revealed two large , anterior, amelanocytic polyps, at 1 cm from the anal verge. The patient denied changes in bowel habits or other symptoms.An elective trans-anal polypectomy was performed. Histopathology showed malignant melanoma: Mixed histology – Spindle and epithelioid cells; Thickness - 11 mm; 16 mitosis/mm2; positive margins. Immunohistochemistry showed positivity to PS100, CD117 and HMB45; and negativity to CAM 5.2, AE1/AE3, p63, CD34.After a multidisciplinary team discussion, and due to the patient’s old age, it was decided to propose a second conservative approach: Wide local excision (WLE) . This tiThe patient was sent to the National Cancer Center for follow up.A year later the patient presented with loco regional recurrence - Anal mass and palpable inguinal nodes, without any constitutional symptoms; Underwent surgery once again: WLE and bilateral inguinal and iliac lymphadenectomy. Pathology observed anal recurrence (free margins <1 mm) and lymph node metastasis (15 out of 35 lymph nodes).Three months later, the follow-up PET-CT scan revealed a pulmonary metastasis at the right lower lobe and mediastinal lymph node involvement . Due to Follow-up was performed every three months with clinical examination and imaging (PET-CT or CT scan). The patient died 32 months after the diagnosis, due to disease progression.3AMM is a particularly rare and aggressive form of melanoma comparing to the cutaneous form. As all melanomas, it is originated from melanocytes, derived from the embryologic neural crest cells. They can be found throughout the body, mainly in the epidermis. In the rectum, these cells are located at the anal transition and squamous zone. AMM tends to spread submucosally. About 20% of the lesions are amelanocytic, carrying worse prognosis, due to its invasive nature ,2.Lesions mostly grow in the anal canal, followed by dentate line and the rectum . ConsideThe etiology is still controversial: UVB radiation is a well-known risk factor for cutaneous melanoma, but it is unclear its influence in the development of AMM. Some authors consider to be a higher incidence in patients infected with HPV and HIV, but it is also controversial .th and 7th decades. It seems to be slightly more prevalent among women and Caucasian [In terms of incidence it is more frequent in the elders, with its peek at the 6aucasian .Due to its non-specific symptoms and rare incidence leading to low index of suspicion, up to 40% of the patients have metastatic disease at presentation ,4. WeinsAn exhaustive diagnostic workup must be done: Colonoscopy to evaluate any synchronous lesions; Endoscopic Ultrasound to assess tumor thickness and local nodal status; Thoracic, abdominal and pelvic CT scan or PET-CT scan to determine nodal and distant metastasis. Histological markers like S-100, HMB-45 and Vimentin may be helpful at diagnostic elucidation [Surgery is considered the pillar of treatment in AMM, however, it is still controversial the aggressiveness of the resection. In early, small studies APR was the standard procedure considering its superior control of local disease. Subsequent studies revealed that APR has no benefit in terms of overall survival when compared to WLE ,2,4. WLEDespite WLE having a higher local recurrence when compared to APR, the recurrence in AMM occurs, simultaneously, locally and with distant metastasis. Consequently, APR has no statistically significant advantage in terms of survival or recurrence rate . On the The inexistence of randomized control trials remains due to the rarity of AMM. In the absence of oncological benefit between WLE and APR, the quality of life of these patients deserves attention .In addition, prophylactic inguinal lymph node dissection does not contribute to increase the survival rate, including when clinically positive ,4. It isNo systemic therapy is yet considered standard of care in AMM. However, it appears to be beneficial the association of surgery and adjuvant chemotherapy, compared to surgery alone, regarding survival . Medicatvs 0%) [AMM has a very poor prognosis, with a mean survival of 20 months after treatment . As predvs 0%) . With thin situ melanoma had no interference with outcome [There are a few histologic markers associated with prognosis: Tumor thickness/size, tumor necrosis and perineural invasion are associated with worse prognosis, the latter having the strongest association with poorer disease-specific and long-term survival. Tumor histologic type was involved with recurrence, but not with survival ,4: Pure  outcome ,4. Patie outcome .4Anorectal malignant melanoma is a rare and aggressive tumor. The clinical, biological and molecular differences make the mucosal melanoma very distinct from its cutaneous counterpart. There is no optimal surgical treatment, due to the lack of prospective studies. However, WLE has faster recovery, less post-operatory complications and similar survival rate to APR.This clinical case has been reported in line with the SCARE criteria Nothing to declare.Nothing to declare.In my institution  the publication of clinical cases, especially those that do not expose the identity of the patient, does not require ethical approval.Considering there is not any signed consent from the deceased patient (C. P. V – Proc: 13006733), guardian or family, it is confirmed that exhaustive attempts have been made to contact the family and that the paper  has been sufficiently anonymised not to cause harm to the patient or their family.Marta Serra, Margarida Martins and Leonor Sardo performed the first two surgeries; Marta Serra wrote the manuscript. Teresa Santos contributed in data research. All authors read and approved the final manuscript.Not applicable – Case ReportMarta Serra.Not commissioned, externally peer-reviewed


Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature.A 24-year-old Chinese male patient presented to the ophthalmologist because of his sore eye and blurred vision.The final diagnosis of presented case is HSS having the main features of the syndrome, however, associated with uncommon ocular features, ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT)changes, including aphakia, glaucoma, long eye axes, cilliary abnormalities, and chorioretinal atrophy.Antiglaucomatous medical therapy failed to reduce the pressure in the right eye and a cyclocryotherapy was carried out. The antiglaucoma eye drops was continued in the left eye.The intraocular pressure has been reduced to the normal range, but the vision has not improved.In the diagnosis of HSS, we should not ignore the extraordinary information especially uncommon ophthalmic features, UBM and OCT changes. We highlight the necessity of a multidisciplinary approach for accurate diagnosis and appropriate management. Until 1981, around 150 cases have been reported.HSS was first described by Aubry in 1893, and described completely by Hallermann in 1948 and then by Streiff in 1950. The diagnostic criteria reviewed by François in 1958 and Pugliese et al reported a chromosomal defect associated with this syndrome. Gerinec et al reported this syndrome in two generations. Autosomal recessive and autosomal dominant inheritance patterns with de novo mutations have been implied in HSS development. There is no sex predication. The potential causes of HSS include an asymmetric second bronchial arch defect that arise during the fifth or sixth gestational week, maternal infections, paternal age and toxin exposure.Most HSS cases occur sporadically, while a few familial cases have been reported in the literature. The inheritance pattern of HSS is still unknown and the etiology still obscure. Schanzlin et alAn interesting case of Hallermann-Streiff syndrome in a 24-year-old Chinese male patient is reported here, with the emphasis on the ocular findings and supplementary examinations.2A 24-year-old Chinese male patient presented to the ophthalmologist because of his sore eye and blurred vision. He weighed 45 kg and his height was 150 cm. The head was brachycephalic with prominent frontal and parietal eminences. There was sparse, black hair limited to the posterior two-thirds of the skull. The skin was dry and desquamative. There was marked bird-like face, including micrognathia and considerable symmetrical limitation of movement in the temporo-mandibular joints  reconstruction revealed a disproportion between the large cranial vault and the small facial skeleton. The facial skeleton was characterized by a marked posterosuperior positioning of the maxillomandibular complex. Most striking was mandibular deficiency. The ascending ramus and body of the mandible were severely underdeveloped. The prominent deviation of nasal septum was found. Odontogenic anomalies consisting of anodontia in incisor teeth and hypoplastic teeth were also found Fig. .Chest X-ray film showed scoliosis, mild platspondyly, and osteoporosis of thoracic vertebral body Fig. .General laboratory studies of blood and urine were normal. No cardiovascular abnormality was present with normal electrocardiography and echocardiography. His chromosome analyses were normal.Both non-consanguineous, unaffected parents had the age of 24 at the birth of the propositus. The prenatal course, labor and delivery were apparently normal. There were 3 normal sibs, an older and a younger sister, and a younger brother; the mother denied having had miscarriages. The patient had given birth to 2 normal children.The patient had visited a local hospital and the diagnosis and treatment were unknown. Local doctors recommended transferring to a better hospital. The final diagnosis of presented case is HSS having the main features of the syndrome, however associated with uncommon ocular features, ultrasound biomicroscopy and optical coherence tomography changes, including aphakia, glaucoma, long eye axes, cilliary abnormalities, and chorioretinal atrophy.Several interdisciplinary doctors were invited to consult about the case. They thought that no need to deal with the situation but for eyes.The patient was provided with antiglaucoma eye drugs. Antiglaucoma eye drugs  failed to reduce the pressure in the right eye and a cyclocryotherapy was carried out. Continued use of the 3 antiglaucoma eye drops  was prescribed in the left eye. The IOP in the right and left eyes were 11 mmHg and 18 mmHg, respectively. The vision has not improved.A follow-up examination performed 3 month after surgery on the right eye indicated that visual acuity of the patient remained unchanged and the IOP in the right and left eyes were 10 mmHg and 16 mmHg, respectively. No adverse and unanticipated events were observed. He could not come to our clinic regularly because he resided in a village far away from Kunming, Yunnan.3The case report is of heuristic value for several reasons. HSS is a rare congenital syndrome of unknown etiology. We report a case with HSS having the main features of the syndrome, however, associated with inconstant ocular features, including absence of lens, glaucoma, long eye axes, cilliary abnormalities, and atrophic chorioretinal changes. However, a few new or rare founding were noted that will be discussed below.The craniofacial findings reported in this case were common features observed in most HSS cases, which include dyscephaly, hypoitrichosis, cutaneous atrophy, ocular abnormalities, and dental abnormalities. Additionally, musculoskeletal abnormalities we observed in this case include proportion short stature, scoliosis, osteoporosis and deformation of thoracic vertebral body, and hyper extensible joint.,8–14Ocular abnormalities are major problems, with the most common features of the eyes being bilateral microphthalmia, congenital cataract, ocular nystagmus, and strabismus. In addition to these principal anomalies, many others have occurred in individual cases; these have been described. Bilateral aphakia might have developed as a result of spontaneous absorption of the congenital cataract in the patient. In several of the cases reported, spontaneous resorption of the cataracts occurred. Rohrbach et al reported a case whose spontaneous lens absorption occurred slowly and completely between the beginning of the 2nd and the end of the 3rd year of life without considerable inflammatory responses. They would recommend awaiting the spontaneous lens absorption in the HSS especially when the cataract is combined with considerable microphthalmia. Srivastava et al also reported a case that showed a complete absence of the lens in both eyes. They speculated that the lens was absent from birth.This case showed bilateral absence of lens. In several cases reported this observation with or without capsular remnants occurred. Pasyanthi et al reported 3 cases had a membranous cataract.–12 The abnormalities which are likely to cause glaucoma in HSS have 2 possible origins. They may be primary hypogenesis or secondary change resulting from intraocular inflammation. Ludwig and Korting described malformation of the anterior chamber angle of a patient with HSS and glaucoma. Some reports suggested that the intraocular inflammation may have been due to hypersensitivity to the cataractous lens substance derived from spontaneous lens absorption or surgical discussion. It may take a long time to absorb the cataractous lens substance spontaneously unless cataract surgery is performed. The eyes with spontaneous lens absorption may tend to become glaucomatous. However, cataract extraction does not avoid the hazard of glaucoma. A few eyes which underwent cataract surgery also became glaucoma.Glaucoma is uncommon for patients with HSS reported in the literature.Most of the reported cases had microphthalmia. We report the case that had longer eye axial length, which is rare in HSS, but did have micocornea and steep keratomethy. Donders PC reported a case whose both eyes were not microphthalmic.UBM can be used to examine the cilliary of eyes that are not observable with conventional optical instruments. Cilliary abnormalities observed with UBM were unreported in HSS. In our patient, the ciliary processes were far forward and even not being viewed. This suggests that there may be a retardation in development, or a progressive degeneration of a ciliary processes caused by loss of lens, that has not been reported in HSS. Unfortunately, the patient was not diagnosed in earlier years. We cannot understand this change come from. Not sure is this is specific for HSS.Changes on OCT have not been documented in HSS with glaucoma previously. Thinned peripapillary retinal nerve fiber layer may be associated with glaucoma or long eye axes, so this need not to be specific for the Hallermann-Streiff syndrome. In several reported cases in which the fundi have been inspected, degenerative disease of the retina has been noted such as chorioretinal atrophy or peripapillary choroid atrophy.Productive capacity has not been studied in HSS patients. Our case had given birth to two normal children. A patient of Hendrix SL, a woman with HSS, was artificially inseminated, and a term gestation ensued.In conclusion, our case report provides additional information especially uncommon ophthalmic features, UBM and OCT changes, to the previous literature on HSS. We emphasize the presence of uncommon ophthalmic features of HSS, including aphakia, glaucoma, long eye axes, cilliary abnormalities, and chorioretinal atrophy. We highlight the necessity of a multidisciplinary approach for accurate diagnosis and appropriate management. Supplementary examinations yielded valuable data and reveal new signs. The patient needs life-long rehabilitation.The author thanks all those who participated in the data collection.Data curation: Wei Shen, Min Dai.Investigation: Wei Shen, Min Dai.Methodology: Qing Zhang.Supervision: Hongsong Li.Visualization: Wei Shen, Yunshan Su.Writing – original draft: Wei Shen, Min Dai.Writing – review & editing: Wei Shen.