Several canalith repositioning procedures (CRPs) such as Gufoni maneuver have been proposed to treat the apogeotropic lateral semicircular canal variant of BPPV (LC-BPPV). The reported success rate varied widely in different studies. Research showed that there was a risk of treatment failure due to insufficient repositioning of the debris. So far, there is insufficient evidence to recommend a preferable CRP for apogeotropic LC-BPPV.A 49-year-old woman and a 48-year-old man diagnosed with apogeotropic LC-BPPV relapse were treated with original Gufoni maneuver for apogeotropic variant but no satisfactory result was obtained. A variation of Gufoni maneuver originally proposed for the geotropic variant was applied to detach otoconia toward the utricle or the non-ampullary arm. Apogeotropic nystagmus was successfully transformed into the geotropic variant. The subsequent Gufoni maneuver was successful. On a 64-year-old male with untreated apogeotropic LC-BPPV, we performed the Gufoni maneuver variation and observed a change in nystagmus direction. In all the three cases, no relapse of vertigo was reported after 1 month.The new application of Gufoni maneuver variation may improve the treatment of apogeotropic LC-BPPV. Treatment efficacy and patient-specific optimization such as head rotation angle deserve a large-scale validation and further investigation. Benign paroxysmal positional vertigo (BPPV) is the most frequent peripheral vestibular disorder induced by changes in head position relative to the gravitational axis . Of all As one of the commonest CRP for LC-BPPV, the Gufoni maneuver has two variations. The original variation proposed for the geotropic variant of LC-BPPV consists of a quick movement onto the unaffected side followed by a downward head rotation, i.e., the “Gufoni nose-down” variation . CinigliThe Gufoni maneuver for the apogeotropic variant (Gufoni nose-up variation) was considered efficient in converting LC-BPPV from the apogeotropic to the geotropic form . A randoRecently, we had observed three patients experiencing severe apogeotropic LC-BPPV. We first performed the Gufoni nose-up variation but failed to convert it into the geotropic variant. Thus, we adopted the Gufoni maneuver for the geotropic variant (Gufoni nose-down variation) to treat the apogeotropic variant and achieved good efficiency.In the Gufoni nose-up variation for the apogeotropic variant, the patient is quickly moved from the sitting position onto the affected side, followed by a rapid 45° upward head rotation before returning to the sitting position . In contA 49-year-old female with no history of vertigo experienced her first vertigo attack 3 months ago without any symptoms of headache, tinnitus, or deafness. The vertigo episode was related to her head position with a short duration of ~1–2 min. The patient had no previous history of other chronic diseases. She had been diagnosed with apogeotropic LC-BPPV in our neurology department and was repositioned with the Gufoni maneuver (Gufoni nose-up variation). The vertigo relapsed 1 day ago before her second admission. The neurophysical examination showed negative results. No spontaneous or gaze-evoked nystagmus was found. The Brain CT showed no structural lesions. The supine roll test was performed with the patient lying on the examination table. Her head was briskly rotated to the right side from the supine position. An apogeotropic nystagmus lasting over 1 min was observed. After the maximal head yaw movement to the right, the patient's head was brought to the supine position and then briskly rotated to her left, which elicited a stronger apogeotropic nystagmus lasting over 1 min. According to Ewald's second law, the right side was the affected side. We performed the Gufoni nose-up variation once a day for 1 week, but there was no transformation of nystagmus direction. Then, we performed the Gufoni nose-down variation. The patient was brought onto the left side from sitting position. A horizontal nystagmus beating toward the uppermost ear was evoked. After a few seconds, the patient's head was inclined 45° downward in the yaw plane and held for 2 min. During this, we observed the nystagmus transforming into the geotropic variant. Subsequent treatment with the Gufoni maneuver (Gufoni nose-down variation) was successful. At the 4-week follow-up, the patient reported no vertigo relapse.A 48-year-old male with no history of vertigo suffered from serious vertigo 1 month ago and remitted spontaneously, and had a relapse 2 days ago while getting up. The vertigo attack was associated with positional change of the head. The neurological examination revealed normal cranial nerve. Strength was grade 5/5 in all four limbs with normal deep tendon reflexes. No spontaneous or gaze-evoked nystagmus was found. Brain MRI scanning revealed no structural lesions. He was diagnosed with right apogeotropic LC-BPPV in the supine roll test by observing the intensity of the nystagmus as in case 1. The Gufoni nose-up variation was performed, but no satisfactory result was obtained. Then, we performed the Gufoni nose-down variation. When the patient was briskly turned to left side-lying position from the sitting position, an apogeotropic nystagmus was observed. After a 45-degree downward turn and 2 min holding, the nystagmus was transformed into the geotropic form. He was treated with the Gufoni maneuver (Gufoni nose-down variation) subsequently and reported no relapse after 1 month.A 64-year-old male had positional vertigo 3 days ago. He had no history of vertigo before. No positive result was found in brain MRI and neurophysical examination. He was diagnosed with left apogeotropic LC-BPPV in the supine roll test by observing the intensity of the nystagmus as in cases 1 and 2 . We perfAn apogeotropic nystagmus that never becomes geotropic is a sign of cupulolithiasis in peripheral vertigo . We assuAccording to the latest guidelines, there are two ways of Gufoni maneuver for treatment of two cupulolithiasis variants . HoweverHowever, there are some limitations in this study. We did not perform the bow and lean test and the seated supine positioning test (SSPT), which can fully confirm the diagnosis of LC-BPPV . The treThe original contributions presented in the study are included in the article/The studies involving human participants were reviewed and approved by Clinical Research Ethics Committee of Zhoushan Hospital. The patients/participants provided their written informed consent to participate in this study. Written informed consent was obtained from the individual(s) for the publication of any potentially identifiable images or data included in this article.JD and FD: conception and study design. JD, HL, and FD: acquisition, analysis, and interpretation of data. JD: first draft of the manuscript. JD and HL: critical reading and manuscript revision. All the authors read and approved the submitted version.This study was supported by the Medical Health Science and Technology Project of Zhejiang Provincial Health Commission and the Planned Projects of Bureau of Science and Technology of Zhoushan (2020ZH065 and 2020C31048).The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.


Cholangiocarcinoma (CCA) is a type of malignant tumor that arises from the epithelium of the bile ducts. According to anatomical location, CCA can be classified as intrahepatic (ICC), perihilar (PCC), or extrahepatic (ECC). CCA can invade and metastasize to other tissues in various ways, but distal skeletal muscle metastasis (SMM) is extremely rare. There are several reports on SMM from ICC or PCC, but SMM from ECC has not yet been reported.A 71-year-old woman was diagnosed with ECC, for which she underwent pancreatoduodenectomy and partial hepatectomy. Nine months after surgery, she was re-admitted to the hospital complaining of a rapidly growing mass on her right thigh with progressive lower extremity edema. Magnetic resonance imaging of the right thigh showed two masses with iso-signal intensity on T1-weighted images and hyper-intensity on T2-weighted images compared with the surrounding muscles. Pathological examination of the fine-needle biopsy specimen revealed that it was similar to the previously detected ECC, and the diagnosis was metastasis of ECC. The patient was treated with opioid analgesics and died of systemic failure three months later.SMM should be considered during the follow-up period despite its low incidence, and perineural invasion may be an essential pathway of distant metastasis in CCA. Other sites of metastasis, including local lymph nodes, liver, lungs, bones, and skeletal muscle metastasis (SMM) in the thigh are rare. Here, we report a case of ECC with short-term SMM in the right thigh.Cholangiocarcinoma (CCA) is a type of malignant tumor that arises from the epithelium of the bile ducts. On the basis of the anatomical location, CCA can be classified as intrahepatic cholangiocarcinoma (ICC), perihilar cholangiocarcinoma (PCC), or extrahepatic cholangiocarcinoma (ECC). There has been an increase in the early detection rate of CCA because of recent improvements in imaging technology, but the treatment effects are still very poor , 2. ECC A 71-year-old woman complaining of “a rapidly growing mass on her right thigh at nine months after pancreatoduodenectomy and partial hepatectomy for ECC” was admitted to our hospital. Nine months previous, the patient was admitted to our hospital with complaints of yellow skin and sclera, yellow urine, and upper abdominal discomfort for two weeks. She underwent pancreatoduodenectomy with ECC diagnosis and received chemotherapy with tegafur after discharge. The postoperative pathological diagnosis was poorly differentiated adenocarcinoma of bile duct, involving the pancreatic tissue, cystic duct, and focal nerve; no vascular infiltration or lymph node metastasis was found . Before 9/L, N 69%, Hb 6.1 g/L; liver function, ALT 13.4 U/L, AST 17.2 U/L, GGT 38.7 U/L, TBIL 9.6 µmol/L, DBIL 4.8 µmol/l; and tumor markers, CA19-9 1,184.83 U/ml, CA50 179.8 iU/ml, CA125 70.5 U/ml. B-ultrasound showed no deep vein stenosis or occlusion of the lower extremities, and the blood flow was unobstructed , CKpan(+), EMA(+), Vim(−), Ki-67(+30%), CgA(−), SMA(−), DM(−), Syn(−), CD7(+), CD34(−), and CD31(−) , and theOpioid analgesics were provided to the patient after the pathological diagnosis because she refused to receive surgical resection, systemic chemotherapy, or radiotherapy. After discharge, the patient died of systemic failure three months later.CCA represents 3% of all gastrointestinal malignancies . ECC canResearchers have found that the most common tumors with muscle metastases come from the pulmonary (25.1%), gastrointestinal (21.0%), and urological systems (13.2%) –8. SMM cβ-adrenergic receptors proteceptors ; (4) theeceptors ; and (5)eceptors .The exact mechanism of SMM in this patient remains unclear, as no vascular infiltration or lymph node metastasis was found in the pathological diagnosis. And there was no significant cervical, axillary, or inguinal lymphadenopathy in the physical examination. But, focal nerve infiltration was confirmed in this case, and we suspect that perineural invasion may have an essential role in SMM besides hematogenous and lymphatic metastasis, which are considered the dominant routes for distal metastases. There is a large network of nerves in the hepatic artery, vena portae hepatica, liver interior, and extrahepatic bile duct. Feng et al.  thought Because most cases of SMM are asymptomatic, non-specific, and in hidden locations , we specSMM is a late manifestation of malignant tumors with an extremely poor prognosis and short survival time. Treatment of SMM is controversial because there is no standard treatment regimen owing to the lack of clinical trials. Radiation therapy, chemotherapy, limited surgical management, and opioid analgesics, as in our case, are used in the treatment of this disease. Kim et al.  recommenHere we experienced a rare case of SMM from ECCA, which has not been previously reported. SMM should be considered during the follow-up period despite its low incidence, particularly when patients complain of progressive muscle-related symptoms.The mechanism and treatment of SMM remain a challenge, and additional cases with detailed pathological and clinical data are required for further research. We speculate perineural invasion may have an essential role in SMM. Hence, to improve the prognosis of ECC, complete removal of the tumor with dissection of the nerve plexus around major vessels should be advocated when skeletonizing the hepatoduodenal ligament.


Acute bowel ischemia is a severe disease often with a poor outcome. Early diagnosis can improve outcome, but atypical clinical manifestations and nonspecific laboratory and instrumental diagnostic findings may delay computed tomographic angiography (CTA). Portomesenteric venous gas (PVG), indirect sign of pneumatosis intestinalis, is considered a late finding with poor prognosis. We report four cases where PVG, easily identified through point-of-care ultrasonography (POCUS), was an early sign of bowel ischemia leading to a precocious diagnosis confirmed at CTA. In acute non-traumatic abdominal pain, an evidence of PVG could be an early ultrasonographic finding of bowel ischemia in the emergency department. Acute bowel ischemia is an uncommon cause of hospitalization, accounting for less than 1 out of 1000 admissions to hospital  Bowel isIn the critical care setting, computed tomographic angiography (CTA) is considered the reference standard for diagnosis. . Many auMale, 56 years old. He was admitted to the emergency department (ED) with mild abdominal pain and hypotension. At arrival, heart rate (HR) was 77, blood pressure (BP) 88/65 mmHg, oxygen saturation (SAT) was 98% in room air, and body temperature was 36.3°C. Venous blood gas (VBG) analysis showed a normal acid-base balance with a mild lactate increase . POCUS showed an altered liver ultrasound pattern due to massive air infiltration in the portal system and portal vein showed a spontaneous echo-contrast with multiple hyperechoic spots flowing in the lumen suggestive of PVG . We immeMale, 60 years old. He presented to the emergency department complaining of severe abdominal pain and vomiting. At evaluation, he presented a HR of 122 bpm, BP 112/70 mmHg, SAT 98% in room air, and body temperature of 36.3°C. Arterial blood gas (ABG) analysis showed a respiratory alkalosis and lactate within normal limits . Ultrasonography showed multiple hyperechogenic spots in the portal vein with altered liver ultrasonographic structure by diffuse air infiltration, compatible with PVG . A CT anFemale, 82 years old. She presented to the emergency department with severe acute abdominal pain, melena, and hypotension. At presentation, HR was 55 bpm, BP 80/40 mmHg, SAT 98% in ventimask with fraction of inspired oxygen of 0.4, and a body temperature of 36.2°C. A VBG showed a metabolic acidosis with hyperkalaemia (K 6.23 mmol/L), mild anaemia (haemoglobin 7.9 gr/dL), and normal lactates . Ultrasonography showed multiple hyperechogenic spots in the main portal vein, suggestive of PVG, and in intrahepatic portal vessels, we did not find free fluid. CT angiography confirmed intestinal pneumatosis and, moreover, showed diffuse mesenteric vascular impairment, particularly in the upper mesenteric artery. We decided not to proceed to the surgical intervention due to the high surgical risk. The patient died 16 hours after admission.Female, 88 years old. She was admitted to the emergency department complaining abdominal pain, haematochezia, and mild fever. At presentation, she had normal parameters  and mild fever (body temperature 37.4°C). ABG lactates were within normal limits. Ultrasound showed multiple hyperechogenic spots in intra- and extrahepatic portal vessels, suggestive of PVG. We performed an abdominal CT angiography which revealed ischemic colitis of the right colon and distal ileum. She was admitted to the operating room and a hemicolectomy with ileostomy was performed. The patient was dismissed after 7 days without complications.Acute bowel ischemia remains a severe disease with an often-poor prognosis. CTA is the reference standard diagnostic technique but it requires a high index of suspicion and so it is often performed at advanced stages of the disease. On the other hand, POCUS is widely available; it is usually performed immediately at bedside after physical examination. POCUS has demonstrated a high accuracy in several cardio-thoracic and abdominal emergencies. In some cases , its specificity reaches 100%, while in other diseases, such as deep vein thrombosis, POCUS is considered the reference standard. As far as bowel ischemia is concerned, duplex ultrasonography has shown relatively high accuracy—both sensitivity and specificity of 85 to 90%—in diagnosing acute mesenteric ischemia, particularly when the upper mesenteric artery is involved by a thrombosis or an embolus .Our small case series suggests that the association of acute non-traumatic abdominal pain—not explained by other emergencies—and ultrasound detection of PVG could be an indirect sign of bowel ischemia which deserves a rapid CTA confirmation. Even if the EFSUMB position paper cite the intestinal pneumatosis as a rare and late finding associated with poor prognosis,  our smal


Pneumatosis intestinalis (PI) is characterised by submucosal and/or subserosal collections of free gas, forming cystic lesions within the gastrointestinal (GI) tract, most commonly seen in the small intestine but it can also involve large intestine or the stomach. PI is idiopathic in about 15% of cases but the majority is secondary to conditions such as autoimmune, infectious, inflammatory, pulmonary, drug and/or traumatic aetiologies. PI is a rare and usually benign complication of systemic sclerosis (SSc), and most patients are relatively asymptomatic. Its pathogenesis is likely to involve complex interplay of mechanical, biochemical, bacterial and/or drug factors.A 67-year-old man with SSc-myositis overlap syndrome for over nine years on long term Mycophenolate mofetil 500mg BD and Prednisolone 8mg OD presented acutely unwell with worsening abdominal pain, bloatedness, distension, intermittent bloody diarrhoea and vomiting for three weeks. He was afebrile but slightly hypotensive and tachycardic. His abdomen was distended with mild generalised tenderness but soft and regular bowel sounds were audible. There were no palpable organomegaly, guarding, rebound tenderness or other signs of peritonism.He had raised serum lactate at 3.1 and pre-renal acute kidney injury secondary to GI losses and reduced oral intake but his full blood count, liver blood tests, serum amylase, calcium profile, blood glucose, venous blood gas and C-reactive protein were all within normal range. His coeliac screen (IgA tTG) was normal. He tested positive for ANA Hep2 (speckled) but negative for ENA, anti-dsDNA and anti-centromere antibodies. His other SSc presentations include Raynaud’s phenomenon and diffuse scleroderma. His contrast-enhanced CT abdomen and pelvis on admission displayed extensive pneumatosis changes, moderately dilated small bowel loops and pneumoperitoneum. There are prominent atherosclerotic changes seen in aorta and its major branches with associated narrowing but there is no acute thrombotic occlusion seen in the main-stem superior or inferior mesenteric arteries or their major branches.The patient was managed conservatively with bowel rest, intravenous fluids and antibiotics, and was referred for palliative care as surgical exploration was deemed inappropriately risky given his underlying ischaemic heart disease and impaired cardiac reserve. He was discharged home following a short hospital stay with anticipatory medications and a short course of Rifaximin followed by monthly antibiotic cycling with Co-amoxiclav, Metronidazole and Ciprofloxacin. He made a surprisingly excellent recovery on the antibiotics and his repeat CT scans at 11 weeks showed complete resolution of the pneumatosis intestinalis.PI with or without pneumoperitoneum is a rare gastrointestinal complication of SSc characterised by numerous intramural air-filled cysts within the GI tract. In spite of its usually extensive involvement of the GI tract, this condition generally runs a benign course and is managed conservatively in most cases. The development of PI in SSc is multifactorial, including mechanical , biochemical (excessive hydrogen production via fermentation processes in gut), overgrowth of gas-producing bacteria and drugs such as corticosteroids that could possibly cause intestinal mucosa atrophy and breakdown.Symptoms of PI can include diarrhoea, constipation, abdominal pain, rectal bleeding and mucous discharge. CT scan has high sensitivity and is the best diagnostic modality for PI. The treatment of PI is based on the severity of symptoms. The underlying cause of PI should be appropriately addressed and managed in all cases. Patients with asymptomatic PI need no further treatment but regular clinical review and monitoring are advisable. Conservative management is preferable to surgical intervention after careful exclusion of acute surgical causes or complications such as bowel perforation, ischaemia or obstruction. For patients with mild symptoms who do not require hospitalisation, antibiotics and elemental diet are recommended. However, for acutely unwell patients with moderate to severe symptoms, hospitalisation is usually required for bowel rest or decompression, fluid and electrolyte replacements, elemental diet or parenteral nutrition, antibiotics, high concentration oxygen, hyperbaric oxygen therapy or octreotide infusion.Our patient was managed conservatively as he did not exhibit any clinical signs of peritonism or bowel ischaemia and surgical interventions were deemed too risky given his underlying cardiac status. He was treated with and has responded well to cycling oral antibiotics for small intestinal bacterial overgrowth which was thought to be contributory to his PI.This case report illustrates that PI could be a rare gastrointestinal complication and presentation of SSc-myositis overlap syndrome, therefore clinicians should be aware of this uncommon manifestation of SSc. Other more common differentials such as inflammatory bowel disease, infections or even an underlying malignancy must be thoroughly assessed for and excluded.Pneumoperitoneum in the context of SSc-associated PI is generally benign in nature, spontaneous i.e. non-surgical and it occurs as a result of spontaneous rupture of the air-filled cysts within the gastrointestinal walls, rather than due to true bowel perforation. PI with or without pneumoperitoneum in patients with SSc is usually asymptomatic and only discovered incidentally on imaging or screening endoscopy. However, patients can present with more acute symptoms such as generalised abdominal pain/tenderness, distension and/or vomiting. These clinical presentations and imaging findings may simulate acute surgical abdomen such as bowel perforation and/or ischaemia, leading to diagnostic dilemma and unnecessary or inappropriately risky surgical interventions. Therefore, a precise diagnosis of PI and correct interpretation of its clinical significance are crucial, since PI is generally managed conservatively with favourable response.Surgical treatment is generally not preferred because GI involvement in SSc is almost always extensive, and operative manipulation is likely to result in post-operative complications. However, emergency laparotomy should be considered in patients who exhibit signs of peritonism or bowel ischaemia and therefore timely involvement of surgeons and multidisciplinary team is essential.


BRAF V600E mutation. Despite the rapid growth pattern, it usually has a favorable prognosis after neurosurgical excision. The presence of this extremely rare, genetically linked tumor, and its combination with Down’s syndrome, the most common human genetic defect, makes this a very novel clinical presentation. It also raises a very research-worthy question of an undiscovered link between these two genetic disorders.Down’s syndrome is the most common chromosomal abnormality in humans. It has been associated with central nervous system tumors such as primary acute lymphoblastic leukemia and germinomas, but desmoplastic infantile astrocytoma has not yet been reported with Down’s syndrome. Desmoplastic infantile astrocytoma is a rare intracranial tumor that mostly occurs in the first 2 years of life. It usually presents as a large, aggressive tumor with both solid and cystic components. Genetically, it has been linked to the In this case, we report a 1-year-old Pakistani origin male child with Down’s syndrome, who presented with progressive macrocephaly and developmental regression over the last 2 months. He was unable to sit by himself, and had lost his handgrip bilaterally. Down’s Syndrome was diagnosed soon after birth, based on typical facial features and presence of palmar crease, and later confirmed karyotypically for Trisomy 21. Upon presentation, initial blood tests did not show any abnormality. Magnetic resonance imaging of the brain was done, and showed a mixed intensity cystic mass with solid dural component posteriorly in the right parieto temporo occipital region. Craniotomy was performed, and about 85% of the tumor mass was excised. Histological examination and immunochemistry confirmed the suspected radiological diagnosis of desmoplastic infantile astrocytoma. After surgical excision, our patient gradually reacquired his previously regressed developmental milestones. Unfortunately, the remaining mass, which could not be excised due to its attachment to the highly vascular dura mater, showed regrowth on repeat brain magnetic resonance imaging. As his parents did not consent to further surgery, chemotherapy was offered as the next treatment option to prevent tumor regrowth.This case report highlights the need for more case data and research to understand desmoplastic infantile astrocytoma, and their genetic correlation with Down’s syndrome. From a clinical standpoint, since desmoplastic infantile astrocytoma has a good postresection prognosis in a majority of early-diagnosed clinical cases, pediatricians, radiologists, and pathologists should consider desmoplastic infantile astrocytoma in their initial differential diagnosis in Down’s syndrome patients with macrocephaly and developmental regression during the first 2 years of life. BRAF V600E mutations [Desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile ganglioglioma (DIG) are classified as glioneuronal and neuronal tumors by the 2021 World Health Organization (WHO) classification of central nervous system (CNS) tumors [utations . Desmoplutations . They arutations . They arutations . Total sHere, we present a case of 1-year-old male with Down’s syndrome, who came to our clinic with a rapid increase in head size, and regression of previously achieved milestones. Radiological imaging showed a large mass in the right parietal, temporal, and occipital regions, suggestive of DIAGA. The tumor was removed, and histology showed classic features of DIA. This case report extends the currently limited research and education related to this very rare pediatric CNS tumor. In addition, this is the first documented case of DIAGA in a patient with Downs’ syndrome, which begs consideration of an undiscovered correlation between these two clinical disorders.A 1-year old Pakistani origin male child with Down’s syndrome, presented with gradual enlargement of the head, and developmental regression over the last few months. He was born at 38 weeks via vaginal delivery after an uncomplicated pregnancy to nonconsanguineous parents . His birth weight was 2.95 kg, length was 52 cm, and head circumference was 35 cm. His Appearance, Pulse, Grimace, Activity, and Respiration (APGAR) score was 7 at 1 minute, and 10 at 5 minutes. Down’s syndrome was diagnosed soon after birth, based on typical facial features and presence of palmar crease, and later confirmed karyotypically for Trisomy 21. His two siblings, aged 6 and 4 years, were alive and healthy. Further social and family history was unremarkable. From a growth standpoint, at birth, he was 10th percentile for weight and 25th percentile for length. At both 6 months and 1 year, he was 25th percentile for weight and 50th percentile for length. His head circumference was 50th percentile at birth, at 6 months it was at 97th percentile, and at 1 year when he presented to the clinic, it was 20 standard deviations (SD) above the 99th percentile. From a growth milestone standpoint, at 9 months, he smiled and laughed at “peek-a-boo,” lifted arms up to be picked up, crawled, and sat up without support. However, at 12 months, his parents noticed that he cried more, stopped responding to his name, and preferred to lay flat rather than crawl or sit. He was also less vocal and less interested in toys.9/L with normal differential. His liver and renal functions were within normal limits. Prothrombin time and activated partial thromboplastin time were also within normal limits. Hepatitis B and C serology were negative. Urinalysis and chest X-ray also did not show any abnormality. He was admitted, and a computed tomography (CT) scan was performed, which showed a large cystic tumor in the right parieto temporo occipital regions  was 11.5 g/dL and white blood count (WBC) was 13 × 10Two weeks later, a right partial craniotomy was performed, and the cystic component of the tumor was completely excised. Removal of the posterior dural-based solid mass was omitted due its attachment to the highly vascular dura mater. Postoperative course was uneventful.The tumor specimen was sent for histopathological examination, which revealed low cellularity with intervening bands of fibrous tissue and collagen fibers. Neoplastic cells had a high nuclear/cytoplasmic (N/C) ratio with hyperchromatic nuclei. Some areas showed hypercellular pleomorphism, necrosis, and microvascular proliferation. Some cells with rhabdoid morphology were also present with abnormal mitosis Fig. . StaininA postoperative CT was done that showed removal of the major bulk of the tumor. A residual mass  was seen adherent to the dura of posterior interhemispheric fissure Fig. . The patA 2 months postoperative, brain MRI with contrast showed a comparatively enlarged 4.2 × 2.6 × 4.1 cm homogeneously enhancing dural-based residual supratentorial mass along the right occipital location. This mass was adherent to the posterior interhemispheric fissure, as well as the tentorium cerebelli Figs. , 8. KeepOf note, although Institutional Review Board (IRB) approval was not needed for this case report, detailed written informed consent was obtained in English from the parents of the patient (who were fluent in the language) for the use of clinical data, imaging, and histology slides for publication purposes.BRAF V600E mutations, which can be further explored through future laboratory genetic studies. But, most importantly, such linkages can help develop new targeted therapies for such mutations that cause such gliomas, rather than current empirical surgical and chemotherapeutic regimens that have lower efficacy for other related and more common CNS gliomas, with much worse outcomes and prognosis.In summary, this is a case of DIA in a 1-year-old patient with Downs’s syndrome. DIA presented at the age of 1 year, with a relatively rapid increase in head size and regression of developmental milestones, along with a large mixed density heterogeneously enhancing brain mass, with both solid and cystic elements on imaging. Histology/immunohistochemistry showed collagenized septa with a small cell population with a high N/C ratio, pleomorphism, increased mitotic activity, strong INI-positivity, GFAP positivity, and a high Ki-67 index in cellular components of the tumor that further confirmed the diagnosis. Although some rare cases of this tumor have been reported in the literature, none have been found in a patient with Down’s syndrome. This makes this case very unique for an undiscovered link between Trisomy-21 and BRAF V600E gene mutation [Desmoplastic supratentorial neuroepithelial tumors of infancy are a rare but distinctive group of tumors that affect children less than 2 years of age . These tmutation . The medmutation , while tmutation . Common mutation .CT and MRI usually show a large superficial cerebral mass with both solid and cystic components . The majHistology usually shows low cellularity with intervening bands of fibrous tissue and collagen fibers. Neoplastic cells usually have a high N/C ratio with hyperchromatic nuclei. Hypercellular pleomorphism, necrosis, and microvascular proliferation are often seen with abnormal mitosis . StaininGoing back to our clinical case, after refusing more surgical treatments, the parents chose to try chemotherapy as the next line of treatment. This case was discussed by the institutional tumor board, and it was decided to proceed with a combination regimen of vincristine and carboplatin, based on the tumor histology and literature support. The patient received three cycles of this treatment before developing pancytopenia. He was given blood transfusions, and granulocyte colony-stimulating factor (G-CSF) treatment, but soon developed a lower respiratory tract infection with respiratory failure. He was transferred to the intensive care unit (ICU) where he was intubated and mechanically ventilated, but was unable to come off the ventilator. He later had a tracheostomy, and a G-tube placed. Unfortunately, he continued to have more respiratory complications, and died of sepsis related complications after 6 weeks in the ICU, and 6 months after his initial diagnosis.Most case reports of DIA have reported a favorable prognosis. Surgery is often curative . ResiduaBRAF V600E mutation, this leads to the question of an undiscovered association of Trisomy 21 with BRAF mutations. In addition, from a clinical standpoint, this is a very treatable tumor, and early imaging and surgery can provide complete cure, and restore good physical function in most cases. This recovery and cure aspect makes it a rare yet very important differential for pediatricians, radiologists, and pathologists who deal with this patient population.In our case, the patient presented within the typical spectrum of the disease symptoms and other typical demographics. The standout point here was the presence of Down’s syndrome as a prior comorbidity, which makes it the first case of a DIAGA tumor in a Trisomy 21 patient. With a genetic basis in DIAs are rare brain tumors that can occur throughout childhood, and should therefore be included in the differential diagnosis in children with brain tumors. Here, we present the first case of DIA in an infant with Down’s syndrome, who presented with macrocephaly and developmental regression. Radiological images showed a mixed solid and cystic, space-occupying lesion for which surgery was done with substantial functional recovery. Based on clinical, radiological, and histopathological findings, a diagnosis of DIA was made. This case adds to the currently limited spectrum of research and education related to this very rare pediatric CNS tumor. In addition, this is the first documented case of DIAGA in a patient with Downs’ syndrome, that begs consideration of an undiscovered correlation between these two clinical disorders, which should be further scientifically examined with additional future research studies.


Posterior mediastinal goiter is not a common cause of dysphagia, and symptoms can simulate esophageal malignancy. This case report highlights two critical clinical aspects. First, the patient's symptoms of gradually worsening dysphagia to solids and liquids, odynophagia, and hoarseness of voice secondary to retrosternal thyroid nodule extension can simulate esophageal malignancy. Second, a barium swallow study can effectively rule out esophageal pathology even though more advanced studies, like High-resolution computed tomography (HRCT), are inconclusive. We present a unique case of isolated posterior mediastinal exophytic thyroid nodule simulating the symptoms of esophageal pathology. Posterior mediastinal goiter constitutes only 10-15% of the intrathoracic goiter. Various symptoms like hoarseness of voice, dysphagia, and difficulty breathing occur due to the mass effect of an enlarged goiter on neighboring organs and tissues [High-resolution computed tomography (HRCT) utilizes thin sections, and images are reconstructed using a sharp algorithm such as a bone algorithm. Although this enhances visible noise, it is a negligible factor in lung imaging due to the lung's high air-to parenchyma ratio. But it makes the mediastinal structures "grainy," and tissues with markedly different attenuations like air and lung tissue are visible with an edge enhancement effect , so it iHowever, barium swallow is more reliable for mediastinal mass evaluation when symptoms point towards esophageal pathology. Furthermore, to rule out any functional disorder of the pharynx, mucosal diseases of the esophagus, which are seen as mucosal irregularities, and its motility disorders, it certainly has an edge of easy availability and economical as opposed to enhancing CT scan or HRCT. Therefore, barium swallow remains the primary imaging modality in assessing esophageal diseases like dysphagia and motility disorders .Although barium swallow may outline esophageal compression from a mediastinal mass as the cause of symptoms, enhanced CT is the imaging modality of choice to evaluate and characterize a posterior mediastinal mass . With thA 70-year-old male with no known comorbidities presented to us with complaints of gradual dysphagia to both solids and liquids accompanying odynophagia and hoarseness of voice with intermittent choking. He also had a productive cough for 15 days. The patient's dysphagia was mild to moderate at first but worsened over the past month. There was no history of involuntary weight loss, heartburn or indigestion, chest pain, vomiting, or diarrhea on additional questioning. And no complaints of heat or cold intolerance or tremors. He was a non-smoker and non-alcoholic. On examination, an old-aged man of average height and build, with no apparent swelling in the neck or chest, no halitosis, and no lymph node enlargement found; the rest of the gastrointestinal examination was also unremarkable. General physical and systemic examinations were within usual limits.As High-resolution CT scan of the chest was already done when the patient presented to us and reported a large mass of smooth and soft tissue identified in the prevertebral location, which extends from the cricoid post area up to the level of the aortic arch, highly suggestive of neoplastic esophageal or mediastinal lesion Figure .So, the Barium swallow study was advised to rule out esophageal pathology, which showed a large space-occupying prevertebral lesion causing anterior and right lateral displacement of the esophagus and causing smooth posterior extrinsic impression over the posterior wall with no mucosal erosion or destruction. In addition, no destructive lesion was identified within the esophagus or hypopharynx Figure .For further precise lesion characterization, a contrast-enhanced CT scan neck and chest was advised. CT scan revealed that both thyroid glands are enlarged, showing multiple subcentimeter hypoattenuating nodules. A large exophytic inferiorly hanging oval-shaped solid lesion is seen arising from the posteroinferior pole of the left thyroid gland, which is extending in prevertebral space and markedly compressing and displacing the esophagus and trachea. It approximately measures 5.1 x 3.8 x 5.0 cm in craniocaudal, anteroposterior, and transverse diameters, respectively. It extends from T1 to the T3 level, and no calcification or necrosis is seen. It is smoothly marginated and markedly compressing the esophageal lumen with no definite invasion Figure .Appearances were more in favor of benign thyroid nodules with unusual presentation. No significant cervical lymph nodes were visualized, and no significant mediastinal or hilar lymphadenopathy. The major vessels of the mediastinum appear normal. SERUM TSH, FREE T3, AND T4 were done and within normal limits, as shown in Table The patient was euthyroid. Based on the symptoms and imaging findings, a diagnosis of secondary intrathoracic goiter was made, and surgical resection of the thyroid gland was done. After surgical resection, patient symptoms remarkably improved within three weeks, mild hoarseness of voice remained for four weeks, but dysphagia, odynophagia, and choking were utterly relieved. Also, follow-up post-surgical biopsy findings were consistent with benign multinodular goiter. The patient's general condition remains good after six months of surgery, with no post-surgical complications seen.We reported a case of a patient who presented with symptoms  that pointed towards esophageal, oropharyngeal, mediastinal, or lung mass. Barium swallow was done, which concluded no esophageal or oropharyngeal lesion. HRCT ruled out lung pathology or mass but concluded there was a mediastinal mass. CT SCAN Chest teased out the diagnosis of secondary intrathoracic goiter. The appearance of the nodule, with the euthyroid status of the patient, explained the symptoms and helped reach the diagnosis. Depending on the origin of the mediastinal lesion, all three modalities have their benefits and limitations.When investigating esophageal pathology, a simple investigation such as barium swallow can prove more effective in ruling out esophageal pathology and narrowing down the diagnosis. Whereas HRCT is best for diagnosing lung parenchymal lesions, an enhanced CT scan is the most important diagnostic method for intrathoracic goiter, particularly the posterior mediastinal goiter situated close to major blood vessels of the thorax and pressing the trachea and esophagus, ascertainment of the correct size and location of the lesion needs multilayer images of the mediastinum done by post-contrast CT scan . This diThe term intrathoracic goiter refers to a goiter with most of its mass located in the mediastinum. The primary location of the intrathoracic goiter is the anterior mediastinum, and the posterior mediastinal goiter constitutes only 10-15% of the intrathoracic goiter . It is cPrimary intrathoracic goiter is an ectopic thyroid tissue separated from a cervical thyroid mass and infrequent (1%). In contrast, secondary intrathoracic goiter is a part of the retrosternal thyroid goiter, as seen in our case. The recommended treatment for secondary intrathoracic goiter is thyroidectomy, either total or partial, succeeding levothyroxine replacement .Compression of the airway due to the increasing mass of goiter is the primary culprit of respiratory symptoms . TherefoHypoparathyroidism, recurrent laryngeal nerve palsy, and hemorrhage are the most common complications of thyroidectomy, although their incidence is low. The most common of these complications is hypoparathyroidism, with an incidence rate between 0.5 and 65% . The mosThe unusual location of thyroid mass, as in this patient, retrosternal and posterior mediastinum, can cause compression of the esophagus and trachea, leading to presenting symptoms similar to the esophageal lesion. When investigating esophageal pathology, a simple investigation such as barium swallow can be more effective in ruling out esophageal pathology, narrowing down the diagnosis, saving time, and preventing unnecessary invasive tests like an esophageal biopsy. An enhanced CT scan can help reach the diagnosis without delay.A radiographic investigation like an enhanced CT scan is the most important diagnostic method for intrathoracic goiter. In cases like this, after the CT scan teases out the diagnosis, the intrathoracic goiter causing compression symptoms should be surgically resected as soon as possible to avoid emergency complications such as acute respiratory distress.


Heterogeneous masses developing in the pleural cavity are most often malignant and can pose diagnostic challenges. Fibrous tumors of the pleura, liposarcoma, thymoma or lipoma most frequently affect this anatomic area. Surgical exploration and resection are often mandatory to make the definitive diagnosis. We report the case of a 54-year-old women who presented with an epigastric and right sub costal pain. A complete preoperative workup revealed a large tissular and fatty mass in the right costo-diaphragmatic angle suggestive of liposarcoma. Surgical resection resulted in the surprising diagnosis of hamartochondroma. Pleural masses or effusions are a common clinical presentation. The challenge for the clinician is to make a precise diagnosis. Although these lesions may share some similarities, clinical history, imaging techniques and sometimes biopsy can help distinguish a benign pleural lesion from a malignant one. In rarer cases, there may still be some doubt. Herein, we report the case of a patient presenting with a heterogeneous pleural mass suggestive of liposarcoma.A 54-year-old woman with a medical history of severe obesity, myocardial infarction, hypertension and resection of uterine fibroids presented with an epigastric and right sub costal pain that had been progressing for 1 year. Physical examination did not reveal much information except a pain on peri-umbilical palpation. She had no nicotine or alcohol-dependent behavior. Vital signs were within normal values. Laboratory tests did not show any infectious syndrome. The electrocardiogram did not reveal any anomaly. The abdominal ultrasound revealed gallstones and a chest X-ray, routinely performed, showed an opacity in the right costo-phrenic angle A. Thus, In front of this unusual pleural mass, an ultrasound-guided biopsy was performed, which confirmed the presence of a heterogeneous tissue mass, not invading the chest wall, and made the diagnosis of hamartochondroma. The patient’s medical chart has been presented to the multidisciplinary tumor board. Our difficulty was that, on the one hand, the appearance on the MRI was very suggestive to our radiologists of a liposarcoma, and on the other hand, the absence of fixation on the PET scan was rather in favor of a less aggressive lesion. As some subtypes of liposarcoma can present with a low FDG uptake , a surgiMost often, individualized and heterogeneous masses of the pleural cavity are malignant, with the most common diagnosis being malignant fibrous tumor of the pleura, liposarcoma, thymoma and pleural metastasis. Sometimes, benign tumors can also be found, such as localized fibrous tumor of the pleura or pleural lipoma . HamartoHamartochondromas are benign tumors derived from peribronchial mesenchymal tissue and usually arise from the lung parenchyma (accounting approximatively for 8% of pulmonary neoplasm) or from the bronchi  ,8. One cFor all these tumors, the diagnosis was made on a surgical specimen. Surgical resection should be performed in symptomatic patients or in patients presenting with a solitary mass or nodule, which cannot be differentiated from malignancy ,16, whicAlthough it is a rare development in the pleural cavity, the diagnostic of hamartochondroma should be considered in the differential diagnosis of a heterogeneous mass in that anatomic area.


PET-CT is the first choice for the imaging diagnosis of intraperitoneal lymphomas. Contrast-enhanced ultrasound (CEUS) is rare in the diagnosis of intraperitoneal nodal lymphoma.A 62-year-old man was admitted for examination with “right upper abdominal pain”. Ultrasound was used to refer to the masses in the hilar region, spleen, and anterior sacral region respectively. The masses were all hypoechoic, and blood flow signals could be detected by CDFI. Laboratory tests of CA125 were within normal limits. CEUS examination was performed on the three masses respectively. The three masses showed different perfusion patterns. Thickened vessels appeared around the mass in the hilar region, a peripheral centrally directed perfusion pattern was observed in the splenic mass, and blood supply vessels appeared in the center of the presacral mass with a significant filling defect. They all showed a contrast pattern with rapid clearance and hypoenhancement compared with the surrounding areas. Ultrasound guided needle biopsy revealed non-Hodgkin’s lymphoma, diffuse large B-cell lymphoma, non-germinal center origin. After biopsy, the patient was treated with R-CHOP regimen for chemotherapy, and the tumor disappeared by routine ultrasound review after 5 cycles of chemotherapy.To the best of our knowledge, this report is the first to describe the findings of CEUS in intraperitoneal nodal lymphoma. CEUS has various manifestations in intraperitoneal nodal lymphoma. Future studies are still needed to explore the diagnostic features of CEUS in intraperitoneal nodal lymphoma. The incidence of lymphoma continues to rise worldwide. According to Global Cancer Statistics 2018, non-Hodgkin’s lymphoma ranks 13th and 11th among all forms of malignancy in terms of morbidity and mortality . Urinary β2 microglobulin 0.762 mg/L, higher than the normal value  thymidine kinase (TK1)0.33pmol/L, still in the normal range. Serum CA125 was 10.58U/mL, and there was no obvious abnormality.Because a hilar mass was showed after scanning the upper abdomen through CT, the patient was scheduled for further examination through contrast-enhanced ultrasound Figure 1Puncture biopsy was performed on the patient’s anterior sacral mass, and 16G automatic puncture biopsy needle  was used. The final pathological results suggested non-Hodgkin B-cell lymphoma, diffuse large B-cell lymphoma, and non-germinal center origin. Immunohistochemical results showed that CD20, CD21, CD19 were positive, Ki-67>90%, Bcl-2>90%, Bcl-6>80%.Through flow cytometry, the results showed double clonal B mature lymphocytes.The final diagnosis of this case was intranodal type diffuse large B-cell lymphoma with splenic infiltration.The patient was diagnosed with diffuse large B-cell lymphoma and received R-CHOP chemotherapy, namely rituximab, dexamethasone, vincristine, epirubicin, and cyclophosphamide, for a course of 8 cycles. After 4 cycles of chemotherapy, abdominal enhanced CT examination showed that the size of the hilar lesion was about 2.96x2.11cm, the presacral mass was unclear, and the size of the splenic mass was about 2.79x3.04cm. After 5 cycles of chemotherapy, conventional ultrasound scan of the whole abdomen showed no definite lesions.in situ hybridization (FISH) and molecular testing (Diffuse large B-cell lymphoma (DLBCL) is the most prevalent subtype of non-Hodgkin lymphoma. Patients usually presented with progressive lymphadenopathy, extranodal disease, or presented with the both, which require treatments . The def testing , 5. Posi testing . However testing –9. DiffeCEUS has the advantages of convenience and easy operation. Contrast-enhanced ultrasound can display the changes of microcirculation perfusion in real time. At present, contrast-enhanced ultrasound has been widely used . CEUS isIn this case, under the CEUS mode the distribution of microvessels presented by different masses was different. Thickened blood vessels appeared around the mass in the hepatic portal area, which became the first perfusion area of the tumor. It may be caused by surrounding blood vessels in the invasive growth process of the tumor. The volume of the pre-sacral mass was large, and the rapid growth rate led to the lack of blood supply in the tumor. Due to the above the filling defect inside the mass was found by contrast-enhanced ultrasound. Due to the different growth location and size, the microvascular distribution of each homologous tumor is slightly different.Superficial lymph nodes are the most common site of lymphomas, especially those in the head and neck. Contrast-enhanced ultrasound can clearly show the distribution of blood vessels in lymph nodes, which makes the diagnosis of superficial lymph nodes more accurate Table 1.CEUS is relatively rare in the diagnosis of lymphomas in extranodal organs Table 2.The value of CEUS in the diagnosis and prognostic assessment of superficial intra nodal lymphoma has been validated. However, its diagnostic value for lymphoma with extranodal organ invasion seems to need further research and verification.CEUS findings of this case of intraperitoneal nodular lymphoma showed hypoperfusion in the early stage of enhancement compared with the delayed perfusion of surrounding tissues, and rapid clearance. The pattern of lesion initiation enhancement is varied. To the best of our knowledge, this report is the first to describe CEUS findings of intraperitoneal nodal lymphoma. CEUS is rarely used in the diagnosis of lymphoma compared with other diseases. The value of CEUS for intraperitoneal nodal lymphoma still needs to be confirmed by subsequent studies.The original contributions presented in the study are included in the article/Supplementary material. Further inquiries can be directed to the corresponding author.Written informed consent was obtained from the individual(s) for the publication of any potentially identifiable images or data included in this article.YZ: Paper writing, patient information collection, literature review; XW: Paper writing, information collection; YH: Writing instruction, implementation of intervention, information collection. All authors contributed to the article and approved the submitted version.


Ectopic pituitary adenoma (EPA) is defined as a special type of pituitary adenoma that originates outside of the sellar region, is extra- or intra-cranially located, and without connection to normal pituitary tissue. EPA is extremely rare, with most cases presented as case reports or small case series. Due to nonspecific symptoms and laboratory indicators, the preoperative diagnosis, treatment and management for EPA remain challenging.Here, we report the imaging phenotype and pathological findings of a case of invasive EPA in a 47-year-old woman. A preoperative non-contrast CT scan revealed a 5.8 × 3.6 × 3.7 cm soft tissue mass located in the sphenoid sinus and clivus. MRI showed an ill-defined solid mass with heterogeneous signals on T1-weighted and T2-weighted images. The mass displayed infiltrative growth pattern, destroying bone of the skull base, invading adjacent muscles and encasing vessels. The patient underwent partial tumor resection via transsphenoidal endoscopic surgery. Pathological examination led to diagnosis of ectopic ACTH-secreting pituitary adenoma. Post-surgery, the patient received external beam radiotherapy.EPA with invasive growth pattern has rarely been reported. The imaging phenotype displays its relationship to the pituitary tissue and surrounding structures. Immunohistochemical examination acts as a crucial role in differentiating EPA from other skull base tumors. This case report adds to the literature on EPA by summarizing its characteristics alongside a review of the literature. Pituitary adenoma originates from anterior pituitary cells and is the most common tumor in the sellar region, accounting for about 10–15% of all intracranial tumors . Most piA 47-year-old female was admitted to our hospital with a ten-day history of hematuria. During admittance, the patient presented with bloody nasal discharge, dizziness and headache. Paranasal sinus CT and brain MRI scans were performed. The patient denied weight gain or loss during recent years. The cardiopulmonary and neurological examinations were normal. The antithyroglobulin antibody (TGAB) level was markedly increased to 1156 IU/ml . All serum tumor markers were within the normal ranges. A non-contrast CT scan of the paranasal sinus revealed an ill-defined mass  in the sphenoid sinus and clivus, eroding the adjacent bone Fig. A. DuringEPA occurs outside the sellar turcica, which is very rare clinically. Since it was first reported in 1909 , only apSimilar to intraseller pituitary adenomas, EPA may also be classified as either functioning or nonfunctioning tumors. Functioning EPA is relatively easy to determine due to its hormonal symptoms. The endocrine disorder caused by EPA is directly related to its secreted hormone type, including Cushing’s syndrome, acromegaly, amenorrhea, lactation, decreased libido and hyperthyroidism. In previous reports , 14, thePreoperative imaging examination plays an important role in the evaluation of EPA. The typical imaging phenotype of EPA can be deciphered from a comprehensive literature review of published reports. Compared to CT, MRI has higher soft tissue resolution and is the first choice for EPA. MRI can clearly show the location, size and extent of the tumor, as well as the relationship between tumor and normal pituitary tissue, which provides important guidance for preoperative localization, treatment management and prognosis evaluation. The MRI findings of EPA are not characteristic, therefore accurate preoperative diagnosis remains a challenge. In the tumor, small foci of hypointensity on T1-weighted images and hyperintensity on T2-weighted images are reported . HistoloTreatment of EPA is similar to intrasellar pituitary adenomas and is dependent on the patient’s clinical manifestation and tumor size, location and invasion. For cases with noticeable endocrine changes or severe local compression, surgical treatment should be considered but individualized according to the specific location of the lesion. Tumor occurrence or poor surgical candidates may be supplemented by radiotherapy and drug therapy , 22. In Because of the rarity of this disorder, accurate preoperative diagnosis for EPA remains challenging. The final diagnosis depends on the combined application of clinical symptoms, imaging phenotype, histology and immunohistochemical markers. Treatment management should be individualized. Our case report advances our understanding of the imaging phenotype of EPA on CT and MRI.


Precalcaneal congenital fibrolipomatous hamartoma (PCFH) is a rare benign skin lesion that typically presents at birth, or within the first several years of life, as single or multiple asymptomatic skin-colored papules or nodules on the plantar heels. We present a classic case of PCFH in a 3-year-old child. This uncommon entity has no reported malignant features or malignant transformations. We demonstrate how this diagnosis can be made clinically without subjecting pediatric patients to potentially painful, traumatizing, costly skin biopsies and unnecessary imaging. Precalcaneal congenital fibrolipomatous hamartomas (PCFH), also known as bilateral congenital adipose plantar nodules, are uncommon benign neoplasms that develop on the plantar feet at birth or within the first few years of life . They maA healthy three-year-old female presented with rubbery nodules on the bilateral plantar feet, present since birth. There was no family history of similar lesions. The lesions grew slowly and proportionately with age. Parents denied changes in the patient’s gait or perceived pain related to the nodules. Physical examination revealed two soft, mobile, non-tender, skin-colored subcutaneous nodules 1.5 cm and 2.0 cm in diameter overlying the bilateral plantar calcanei (Figures PCFH is a benign neoplastic process that typically presents at birth or within the first several years of life as one or more asymptomatic, skin-colored papules or nodules on one or both plantar heels . LesionsIf biopsied, PCFH histology is characterized by dermal lobules of mature adipocytes surrounded by collagenous fibrous sheaths without overlying epidermal changes . UnfortuPCFHs are uncommon, benign, and typically asymptomatic lesions that can develop from birth to early childhood and may spontaneously resolve by two to three years of age. In this case of PCFH in a three-year-old, the patient’s parents were reassured regarding the nature of PCFH and no further work-up or treatment was recommended. Follow-up one year later revealed asymptomatic, stable-sized lesions that did not bother the patient, further supporting the diagnosis. This report demonstrates that classic clinical features can be used to make this rare and likely underrecognized diagnosis without subjecting young patients to avoidable and potentially traumatic and costly lesion biopsy and unnecessary imaging.


Teaching Point: Cemento-ossifying fibromas are rare, benign tumours that are mostly found in the tooth-bearing areas of the mandible or maxilla and can be seen on cone-beam computed tomography. A 20-year-old woman presented at the maxillofacial surgeon because of a painless submucosal swelling under the right upper lip that had been present for over one year.Cone-beam computed tomography (CBCT) scan showed a sharply demarcated hypodense nodule 2.1 cm) centred in the space between the roots of tooth element 14 and 15  and 2..1 cm cenThe lesion had an expansive character with loss of cortical delineation of the anterior wall of the right maxillary sinus .The lesion was surgically removed and was histologically proven to be a cemento-ossifying fibroma.Cemento-ossifying fibromas are rare, benign tumours that are mostly found in the tooth-bearing areas of the mandible or maxilla. The 2005 World Health Organisation (WHO) classification considers them as osteogenic tumours. They consist of fibrous tissue and various amounts of calcified tissue and cementum. Their origin is thought to be the periodontal ligament, which explains their usual close relationship to the teeth .Cemento-ossifying fibromas mostly occur during the third and fourth decades of life and have a female predilection. Patients often present with a slow growing solid mass, that may displace the teeth .On plain radiographs, cemento-ossifying fibromas present as well-circumscribed lucent lesions. On computed tomography (CT) scan they show soft tissue attenuation and they usually enhance after administration of intravenous iodinated contrast. Calcifications develop as the lesions mature . CBCT caTreatment consists of surgical excision. Postoperative recurrence is considered rare .The differential diagnosis, depending on the degree of calcification includes (but is not limited to): juvenile ossifying fibroma, odontoma, odontogenic cyst, cementoblastoma, fibrous dysplasia, osteosarcoma, osteochondroma, and chondrosarcoma .


An approximately 12-year-old, 31 kg, male neutered Labrador Retriever was presented to the referring hospital with an acute onset (less than 1 day) of hematemesis and melena. The dog was treated supportively for a presumptive gastric ulcer for 4 days with intravenous fluids, gastro protectants, such as pantoprazole, misoprostol, sucralfate, and barium, as well as an anti-emetic (maropitant) and analgesics . Throughout medical management, the dog continued to require blood transfusions approximately every 24 h. Given the poor medical response, the patient was subjected to an exploratory laparotomy. During surgery, a grossly raised, blister-like lesion on the mucosal surface of the stomach was appreciated on the lesser curvature of the stomach. A partial gastrectomy was performed, and the segment was submitted for histological evaluation. Histologically, there were multiple, tortuous, medium-caliber muscular arteries (>1.0 mm in diameter) in the submucosa. A single large-caliber artery (>0.75 mm in diameter) containing a partially occlusive thrombus extruded through the mucosa and projected on the ulcerated surface. The patient's signs were similar clinically and histopathologically to Dieulafoy's lesion in people. A Dieulafoy's lesion is a potentially life-threatening disorder that causes gastrointestinal (GI) hemorrhage. This lesion is characterized by a dilated, large-caliber, aberrant submucosal artery that erodes through the epithelium and ruptures, resulting in massive and potentially fatal hemorrhage. This lesion has never been documented previously in a dog. Gastrointestinal (GI) hemorrhage is a significant cause of morbidity and mortality in dogs. It can be caused by various etiologies, such as coagulation disorders, neoplasia, toxin exposure, non-steroidal anti-inflammatory drug (NSAID) administration, hepatic or renal disease, hypoadrenocorticism, and vascular anomalies . VasculaAn approximately 12-year-old, 31 kg, male neutered Labrador Retriever was presented to the referring hospital with an acute onset (less than 1 day) of hematemesis and melena. The patient had a history of carprofen, a non-steroidal anti-inflammatory (carprofen 4.4 mg/kg PO q24 h), and opioid (tramadol 2 mg/kg PO q12 h) administration intermittently over the past 2 years for arthritis. Both drugs were given at appropriate doses and frequencies and were given as needed, which was typically 3–5 times a month. The last dose of these drugs was given 5 days before the onset of clinical signs. Baseline bloodwork the morning after admission included a complete blood count (CBC), biochemistry panel, and coagulation panel . CBC finWithout an obvious underlying cause for the clinical signs, the dog was treated supportively for a presumptive gastric ulcer, with top differential etiologies being neoplasia (such as a gastrinoma) or chronic NSAID use. It was treated medically for 4 days with intravenous fluids, gastro protectants, such as pantoprazole, misoprostol, sucralfate, and barium, as well as an anti-emetic (maropitant) and analgesics . Throughout medical management, the dog continued to require blood transfusions approximately every 24 h based on the acute onset of pale mucous membranes, tachycardia, tachypnea, hypotension, hyperlactatemia, weakness, and a decreased packed cell volume (PCV) and total solids (TS). The dog received a total of 47 ml/kg of blood products (packed red blood cells and fresh whole blood) during this time. Between transfusions, the dog clinically looked well and was eating voluntarily but continued to have melena intermittently.On day 4 of hospitalization, an upper gastrointestinal endoscopy was performed based on the poor response to medical management and continued need for blood transfusions. The gastric mucosa could not be adequately examined due to the presence of large blood clots in the stomach; thus, abdominal exploratory surgery was performed. There was approximately 500 ml of dark red, clotted blood within the gastric lumen. A small, 2 cm in diameter, round, light pink blister-like lesion was present on the mucosal surface of the stomach near the pyloric antrum, closely associated with the lesser curvature . The surHistologically, there were multiple cross and longitudinal sections of medium-caliber, tortuous muscular arteries (>1.0 mm in diameter) located in the submucosa subjacent to the grossly visible blister-like lesion . A singlThis report describes an unusual case of life-threatening gastrointestinal hemorrhage in a dog caused by a rupture of an ectopic artery within the gastric submucosa. To our knowledge, there are no previous case reports describing an ectopic gastric artery leading to a potentially fatal hemorrhage in a dog. The patient's signs were similar clinically and histopathologically to Dieulafoy's lesion in people, which has also never been documented in a dog. A Dieulafoy's lesion is a potentially life-threatening disorder that accounts for 1–6% of all causes of gastrointestinal hemorrhage in humans , 9. ThisThe cause of Dieulafoy's lesion is unknown, and various studies in people have failed to show an association with NSAID administration, chronic alcohol consumption, or other underlying diseases, such as hypertension, cardiac disorders, and renal failure. The vascular architecture of the lesser curvature of the stomach may explain its predisposition to develop this lesion. The most widely accepted theory is that Deulafoy's lesion is a congenital anomaly. When an aberrant submucosal artery traverses close enough to the mucosal surface, it becomes vulnerable to rupture. It is also believed that mucosal ulceration and ischemia may be the initial steps in the rupture of this submucosal blood vessel . The pulvia upper GI endoscopy in 70% of the cases. However, lesions can be missed if they are small, not actively bleeding, or obscured by large amounts of blood in the lumen (Antemortem diagnosis of Dieulafoy's lesion is often made he lumen , 11. Thehe lumen . There ahe lumen , 16. Thehe lumen . Additiohe lumen . HistoloIn conclusion, this case report describes a ruptured aberrant gastric artery, consistent with Dieulafoy's lesion in people, resulting in a massive and life-threatening gastric hemorrhage in a dog. Although rare, this type of vascular anomaly should be included in the differential diagnosis list in dogs that have experienced intermittent, profuse GI hemorrhage that is unresponsive to traditional medical management. Upper GI endoscopy may fail to identify the lesion in cases with marked intraluminal blood accumulation; thus, when evaluating gastric biopsy, pathologists should consider Dieulafoy's lesion as a possible differential when a large caliber-persistent artery traverse through the submucosa and mucosa.The original contributions presented in the study are included in the article/supplementary material, further inquiries can be directed to the corresponding author.Ethical review and approval were not required for this case because the dog was submitted for routine diagnostic post-mortem examination to the Department of Pathobiology and, as such, is not subject to animal ethics guidelines. The owners permitted the post-mortem evaluation.MT followed the clinical case. MS and JK performed the antemortem examination and final report. DB and MS prepared the manuscript and literature review. MS contributed to the design, supervised the study, and critically revised and edited the manuscript. DB, MT, JK, and MS reviewed the final submission. All authors read and approved the final manuscript.The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.


Among anorectal malformations (ARM), the isolated H type anovestibular fistula (AVF) with a normal anus is a rarity, affecting only approximately 3% of patients with anorectal malformations. AVFs are abnormal, epithelial-lined connections between the anal canal and vestibulum, and their management is a challenge for surgeons. Complete excision of the entire fistula tract is the goal of treatment, but this can often be difficult. Moreover, recurrences are not so rare. Fistulas can occur as a result of a congenital malformation, but most often have an acquired etiology. Here, we report AVF with a normal anus in a newborn. The fistula repair was performed using a biopsy punch and layered closure without overlapping suture lines, when the patient was 4 months old. Anorectal malformations are congenital defects where the lower end of the digestive tract, including the anus and rectum, do not develop properly.The most widely accepted system for identifying anorectal malformations is Pena's classification. Anal stenosis or web, rectal atresia, rectoperineal fistula, and imperforate anus without fistula are common in both males and females.Specific female defects are rectovestibular fistula and cloaca with a short or long common channel. An isolated H-type anovestibular fistula (AVF) with a normal anus is a rarity , 2.Anorectal malformations occur in approximately in 1 in every 5000 live births. They are slightly more common in males 1.2 to 1). H-type ARMs, including AVF with a normal anus, are uncommon. H-type ARMs may be isolated occurrences or accompanied by other malformations, including double vagina, anal stenosis, and other renal anomalies. These malformations are categorized as a rare regional variant in the Krickenbeck classification [ to 1. H-The management of AVF includes surgical excision of the entire fistula with or without protective colostomy. The most used procedures are the perineal approach and the antero- or postero-sagittal approach. This study presents an H-type-isolated AVF with a normal anus and is treated successfully via transvaginal excision of the fistula using a biopsy punch.A female newborn was referred from the pediatric department after having suffered a urinary tract infection with a suspicion of anorectal malformation. The physical examination showed stool discharge from the vestibulum. After management of the urinary infection, a detailed examination including cystoscopy, vaginoscopy, and rectoscopy was performed under general anesthesia. These showed an isolated AVF with a normal anus and no further associated anomalies. A fistula site was found below the vagina in the midline, and the internal opening was in the anterior anal wall above the dentate line .To prevent recurrence of urinary tract infections, we started prophylactic oral antibiotherapy. We refrained from performing the surgery during the newborn period, instead waiting for the patient to grow. The patient was growing well; at 4 months of age and weighing 7 kg, she was scheduled for fistula repair without a colostomy.After adequate bowel preparation, the fistulous tract was excised using a biopsy punch. A lacrimal probe with a sponge on one end was placed into the rectum and up through the vestibular fistula tract. A 4-mm biopsy punch was placed over the distal end of the lacrimal probe and down on the fistula, and with several turns, the entire fistula tract was excised .After fistula excision, the lacrimal probe was removed and replaced with a Hegar rectal probe. A layered, nonoverlapping closure of the anterior wall of the anus was performed longitudinally and vestibulo-anal connective tissue transversally, and then, the vestibulum was completed with 4/0 vicryl sutures longitudinally . A urinaHistological results of the fistula tract were reported as inflamed fibromuscular tissue and reactive epithelium. On postoperative day 3, the baby was discharged without any complications. Postoperative 6-month follow-up revealed no recurrence; the baby is healthy and in good condition.An AVF with a normal anus can occur as a result of a congenital malformation or have an acquired etiology. In the English literature, Tahmina reports the largest series of congenital AVF with a normal anus . A studyIn order to make an exact diagnosis, we carried out endoscopic examinations on our patient. They showed an isolated H-Type AVF with a normal anus, without any further associated anomalies or pathological findings. The fistula site was found below the vagina, and the internal opening was in the anterior anal wall above the dentate line.Another important topic of discussion in fistula repair is the surgical technique. There is no consensus about the surgical strategy for this type of anomaly. Some authors prefer surgical repair with a protective colostomy. Operating with a protective colostomy is clearly a safe option for healing the repaired fistula. On the other hand, every operation for protective colostomy is an additive morbidity for the patient.Pena reported the medical records of 1700 cases and of anorectal malformations with protective colostomy. This retrospective study showed 616 complications with mislocation, stenosis, retraction, prolapsus, and general complication, and 230 of them underwent a reoperation .We did not use colostomy in our case. Our decision was to perform a primary repair of the fistula, lowering the morbidity by avoiding the two colostomy operations, opening and colostomy closure. We refrained from performing the operation during the neonatal period. Only when the baby weighed a healthy 7 kg at the age of 4 months did we decide to repair the fistula without a colostomy.Among the fistula repair procedures favored by pediatric surgeons are the perineal, antero-sagittal, and postero-sagittal approaches. They vary from simple excision of the fistula tract to extensive perineal dissection. In the English literature, the largest series with congenital AVF with normal anus belong to Tahmina, who treated 24 girls without protective colostomy via the perineal approach .Fistula tract excisions are often challenging for surgeons and do need expertise and meticulous dissection and preparation to remove the fistula without any injuries.Despite all efforts, fistula tract injuries can occur during conventional excision using scalpel, cautery, or scissors. This can result in a fragmented tissue specimen, and sometimes residual epithelial tissue is left behind, which may jeopardize the success of closure and result in recurrence of the fistula tract.Punch biopsy excision is more safer in case of a short, small fistula outside of the sphincter mechanism, with a straightly oriented fistula tract, in contrast to conventional excision technique. The lacrimal probe functions as a guide and allows rapid, sharp, and exact removal of the fistula tract in using the punch biopsy method.In our case, the anovestibular fistula was outside of the sphincter and was oriented straightly . Due to The preference of the easiest method in surgery is a general opinion. And in addition to this statement, minimal handling principle should be kept in mind in pediatric surgery, especially in newborns . We perfAs a conclusion, in the management of AVF with a normal anus, primary repair without colostomy is a good option. Our main motivation for performing the technique using a biopsy punch is that removing the entire fistula tract seems to simplify that step and the remainder of the repair, mobilizing tissue planes in order to create several nonoverlapping layers between the anus and the vestibulum.


ASPL-TFE3 fusion gene. Herein, we report a case of ASPS associated with brain metastasis. Immunohistochemistry (IHC) for TFE3 antigen expression and fluorescence in situ hybridization (FISH) for TFE3 rearrangement were performed to arrive at an accurate diagnosis.Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma harboring an A 47-year-old man was hospitalized for a headache and numbness of the lower limbs.Preoperative computed tomography and magnetic resonance imaging revealed 2 brain masses, 1 each in the right parietal and temporal bones. We diagnosed this case as ASPS with brain metastasis based on histological morphology, IHC, and FISH.The patient underwent right skull titanium mesh implantation and supratentorial superficial lesion resection.: The patient recovered well after discharged from hospital.The diagnosis of ASPS depends on careful clinical, radiographic, histopathological, IHC, and FISH assessments to arrive at the correct diagnosis. Thus, TFE3 may be useful in the diagnosis and treatment of ASPS. This type of tumor is more common in young people, particularly those aged 15 to 35 years.–7 ASPS usually affects the head and neck of children. However, they usually occur in the lower limbs of adults. The main characteristics of the tumor are its insidious onset, which manifests as a painless, asymptomatic mass in the deep parts and rapid metastasis.  Metastatic tendency of ASPSs is high, and some patients have metastatic disease at the time of hospital visit. Metastasis occurs primarily in the lungs (42%), bones (19%), brain (15%), and lymph nodes (7%).,10 The prognosis for patients with metastasis is poor. A nonreciprocal chromosomal translocation der(17)t of ASPS results in an ASPSCR1-TFE3 gene fusion. Therefore, targeted therapy may be an effective treatment option for ASPS. Herein, we report a case of ASPS with brain metastasis and analyze it via immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH).Alveolar soft part sarcoma (ASPS) is a rare and malignant soft tissue sarcoma that accounts for only 0.5% to 1.0% of soft tissue tumors.A retrospective chart review of the patients was conducted at Hangzhou Red Cross Hospital after obtaining approval from the institutional review board. A 47-year-old man was referred to our hospital with headaches and numbness of the lower limbs for 7 days. He had a history of lumbar tuberculosis for 4 years. Specialist examination: the right occipital lobe reached a 3 × 3 cm mass, similar to the right temporal-frontal lobe.Computed tomography and magnetic resonance imaging revealed 2 brain masses, 1 each in the right parietal and temporal bone. Computed tomography of the brain showed destruction of the right parietal and right temporal bones with soft tissue shadow  labeling and strong nuclear immunoreactivity for the TFE3 protein, which proved to be highly sensitive and highly specific for neoplasms with TFE3 fusion proteins.TFE3 gene at Xp11 to the ASPL gene at 17q25, resulting in fusion of the TFE3-ASPL gene. Reverse transcription-polymerase chain reaction and FISH are tools available for identifying this translocation. However, reverse transcription-polymerase chain reaction may be limited by RNA quality due to the degradation of RNA in the archival material. FISH is a cost- and time-efficient method that uses the most accessible material in the laboratory, formalin-fixed, paraffin-embedded tissues, for the detection of TFE3 (Xp11.2) gene rearrangement. FISH has been shown to be a highly sensitive and specific test for TFE3 rearrangements.–23 In this study, we used a break-apart FISH probe assay and observed green and red split signals, indicating TFE3 gene rearrangement. This finding further confirms the diagnosis of ASPS.ASPS is characterized by an unbalanced translocation that results from the fusion of the  That is, there is a significant relationship between tumor size and the probability of metastasis in ASPS. It has been reported that following surgical resection, the 5-year survival rate of patients without metastasis is 87%, while that of patients with metastasis is only 20%. The patient was a 47-year-old man with a small tumor measuring 2 cm with free surgical margins. The patient had no signs of recurrence or disease 6 months after surgery.ASPS is extremely rare, and its prognosis is poor, often characterized by late metastases. Some studies have shown that the most important parameters for prognosis are age at diagnosis, tumor size, and presence of metastasis. Younger age at presentation and smaller tumor size are associated with better tumor prognosis.ASPL-TFE3 expression may provide information for clinical molecular pathological diagnosis and improve the diagnostic rate of ASPS. Patients should be strictly followed up after surgery to detect residual/recurrent disease and delayed metastases.In conclusion, TFE3 immunostaining and fusion gene http://www.internationalscienceediting.com) for editing the manuscript.The authors thank Editage (Writing – original draft: Yan-Ying Huang.Writing – review & editing: Yan-Ying Huang, Yue Zhang.Conceptualization: Wan-Rui Yang.Data curation: Yan-Hua Geng, Yan-Ying Huang, Yue Zhang.Funding acquisition: Yan-Ying Huang.Investigation: Wan-Rui Yang,Yan-Hua Geng.Resources: Yan-Ying Huang, Yan-Hua Geng, Yue Zhang.Supervision: Yue Zhang.


Knowledge of celiac trunk anatomy is important in gastrointestinal surgery, hepatopancreatobiliary surgery, transplantation and interventional radiology. Variations in the celiac trunk are common and should be predicted prior to these interventions.A 58-year-old woman was admitted to our department for surgical treatment of gastric cancer (GC) confirmed by gastroduodenoscopy and gastric antrum biopsy. In the contrast-enhanced computed tomography (CT), we found an absence of both the celiac trunk artery (CA) and the common hepatic artery (CHA). Therefore, we used computerized three-dimensional (3D) vascular reconstruction technology to reconstruct the abdominal trunk and its branch vessels before operation.Computerized 3D vascular reconstruction confirmed an extremely rare vascular anomaly: the absence of both CA and CHA. The splenic artery (SA) and gastroduodenal artery (GDA) originated from the abdominal aorta (AA). The left gastric artery (LGA) originated from the AA directly above the junction of SA and the GDA. The left hepatic artery (LHA) originated from the left gastric artery (LGA). The right hepatic artery (RHA) originated from the superior mesenteric artery (SMA). Laparoscopic radical resection of GC was performed. This anomaly was also confirmed intraoperatively. This patient was discharged on the 10th day after surgery without any postoperative complication. There were no signs of tumor recurrence during the 6-month follow-up.Correct identification of abnormal abdominal large blood vessels and their relationship with tumors before surgery is of great significance to avoid intraoperative blood vessel damage, major postoperative complications and the missing of lymph node dissection. A 58-year-old woman was admitted to our department for surgical treatment of GC. Endoscopic wight-light images demonstrated a 3–4-cm irregular bulge lesion with an ulcer-like central depression located on the greater curvature of the gastric antrum. Histopathological diagnosis was poorly differentiated carcinoma. IHC:CDX2 (+), CKpan (+), EMA (+), Ki67 +10%), CgA (−), and Syn (−). Persistent upper abdominal pain was the main symptom. The signs of abdominal physical examination were negative. Results of subsequent laboratory tests were within normal limits. Contrast-enhanced CT first indicated the absence of both CA and CHA. Therefore, we used computerized 3D vascular reconstruction technology to reconstruct the abdominal trunk and its branch vessels and confirmed this extremely rare vascular anomaly before operation. Both CA and CHA were absent. SA and GDA originated from AA. And LGA originated from AA directly above the junction of the SA and GD and gave off LHA. RHA originates from SMA , moderately-poorly differentiated adenocarcinoma, infiltrating into the submucosa and metastasizing to 1/17 lymph nodes on the lesser curvature and 5/7 lymph nodes on the greater curvature. IHC:CDX-2(+), CK7(+), CK20(+), Ki67(+70%), CgA(−), Syn(−), CD56(−), P53(+), P16(−), Villin(+), and Contrast/CerbB-2(−).The technical parameters of CT were as follows: Imaging was performed using a Canon Aquilion ONE  which was equipped with 320 detector rows and with each 0.5 mm in width. The scanning range was 2–3 cm from the lower edge of the diaphragm to the upper edge of the pubic symphysis. The scan was helical with a 2.0-mm section thickness , gantry speed 0.625 s/rotation and table speed 25.5 mm/rotation. Images were reconstructed in the axial plane with 1 mm slice thickness. The intravenous iodinated contrast was iohexol . Seventy milliliters was injected at 5 mL/s. Acquisition was triggered automatically by an attenuation of 100 HU in AA.The celiac trunk trifurcating into three main branches  is the most classic and common. It was described by Haller and called tripus Halleri in 1756 . In AdamThe limitation of this paper is that the abdominal angiography could not be performed before surgical operation, but this vascular anatomy was reconstructed by the computer 3D reconstruction technology. Since the operation was a laparoscopic radical gastrectomy, the surgical field of view also have a few limitations. It is a pity that the images of the mutant blood vessels and their adjacent blood vessels could not be fully exposed.Accurately understanding the vascular anatomy of the CA is essential for surgery on the stomach, pancreas, spleen, liver and biliary tree. Identifying vascular variation prevents intraoperative confounding and complications . Before In conclusion, our case demonstrated a novel, undescribed, and unclassified vascular anatomy. We hope provide new tips for the field of surgery and interventional radiology.


Osteofibrous dysplasia is a rare non-malignant fibro-osseous bone tumour, first described and characterised under this name by Campanacci in 1976. It is most commonly encountered in the tibia of children and young adults, but less frequently seen in the neonate with only few prior reports in the literature. We report a case of neonatal congenital osteofibrous dysplasia, presenting with unilateral limb deformity at birth. Radiographs demonstrated well-defined mixed lytic-sclerotic lesions, in a previously unreported distribution in this age-group, confined to the distal metadiaphysis of the affected tibia and fibula. Open surgery was performed for deformity correction, with tissue biopsy confirming the radiographically-suspected diagnosis. We present the up-to-date clinical, radiological and pathological findings in this case of a rare pathology with some novel features, within this age group, in disease distribution and consequent radiographic appearances. OFD should be considered in the differential of similar congenital deforming bone lesions of the lower limb. We also review the small number of previously published cases of congenital OFD in the neonate, noting in particular that the frequency of ipsilateral fibular involvement appears to be higher than that observed in older patients. A female term neonate was noted at birth to have a deformity of her left lower limb/ankle with an anterolateral tibial bow associated with marked varus angulation and procurvatum . Deliver1–5 including irregular woven bone trabeculae with prominent osteoblastic rimming, and bland spindle cells in a fibrous stroma, without features of malignancy or alternative pathology. Cytokeratin staining demonstrated only single dispersed positive cells  and remains unusual in its more typical patient population of older children. We summarise the lesion distribution, outcome after follow-up, and other clinical features of the prior six congenital neonatal cases in 2,3,6–9 and the current patient, 71% (5/7) exhibit changes within both tibia and fibula either at presentation or after follow-up. This contrasts markedly to the much lower frequency of ipsilateral fibular involvement in published series of older children and young adults, of 12–20%.1,5,10 In those series the tibia, and often specifically its proximal part, is described as the typical location of osteofibrous dysplasia.1,4,5,10 In this particular regard, that which is uncommon in the adolescent appears the norm in the neonate and viceversa. It has been stated that OFD has “a predilection for the tibia in children”,4 to which we suggest the fibula should be added in neonatal cases.We also note with interest that of the six previously reported neonatal cases , 2,3,6–9Neither the presence of fibular involvement nor the distal distribution within the bones should, therefore, dissuade the radiologist from making the diagnosis of neonatal congenital osteofibrous dysplasia in an otherwise appropriate setting.4–6 However, to the best of our knowledge there are no reported occurrences of congenital lesions diagnosed in the immediate neonatal period proven to represent either process, with a literature search demonstrating no published such cases.11 It remains plausible that these conditions could occur in the neonate but would be exceedingly rare and should only therefore be considered in the context of significant radiographic or histological evidence in their favour. It may be possible, as in this case, to suggest a diagnosis of neonatal congenital OFD radiographically with a high level of certainty, when the typical features are present.The radiologist’s role in neonatal osteofibrous dysplasia is likely to primarily lie in differential diagnosis. Some plausible differentials of lower limb bony deformity at birth are readily excluded on clinical or radiological grounds, for example trauma and congenital talipes equinovarus. Others can be differentiated by non-image based diagnostics, such as genetic testing in the case of neurofibromatosis Type 1, which would also be expected to have neurocutaneous stigmata in addition to deformity and a focal osseous lesion. When radiographs demonstrate typical osteofibrous dysplasia-like appearances of a mixed lytic and sclerotic bone lesion associated with deformity in the tibia of a neonate, with or without fibular involvement, there is a more limited differential. In particular, the radiographic distinction from adamantinoma and fibrous dysplasia may pose difficulty, and in an older child the former is a specific concern due to the potential for malignancy and hence requirement for more aggressive treatment.2,3,6–9 When the radiographic appearances are convincing, therefore, the cost and complexity of cross-sectional imaging can be avoided. If confirmatory histology is desired, needle or open biopsy (as opposed to more aggressive surgery) is safe and does not risk failing to identify adamantinoma if it is accepted that it does not occur in the neonate. In 5/7 (71%) cases, including ours, no attempt at curative resection was made, with good long-term outcomes subsequently seen at follow-up intervals of 1–7 years (We note that although cross-sectional imaging was commonly employed in the reported cases of neonatal congenital osteofibrous dysplasia, with 4/6 patients undergoing MRI and 1/6 CT , no uniq–7 years . These rOsteofibrous dysplasia, although rare, should be considered in the differential diagnosis of congenital deforming bone lesions of the lower limb of children and young adults. It has characteristic radiographic appearances, primarily comprising focal mixed lytic and sclerotic change centred on the cortex.The disease process may affect any part of the tibia and, in neonates, commonly also the fibula. The involvement of the latter is less common in older children.If confidently diagnosed, aggressive treatment including surgical resection is unnecessary, as neonatal OFD has a benign course.


LCH can involve any organ, but osteolytic bone lesions are most often encountered. Unifocal bone lesions may regress spontaneously after a thick needle biopsy has been taken.Langerhans cell histiocytosis (LCH) is a rare haematological neoplasm characterized by the accumulation of CD1aBRAFV600E mutated osteolytic LCH lesion in the left proximal humerus of a 46-year-old previously healthy woman. Despite multiple surgical interventions, she unexpectedly experienced progressive disease manifestation with significant soft tissue extension to the surrounding musculature, subcutis and epidermis. Because the disease manifestation remained loco-regional, radiotherapy (RT)  was initiated.In this case report, we describe the initial presentation of a single The patient achieved a complete remission without any side effects. This case highlights that RT is a rational and relative mild local treatment option for patients with aggressive LCH affecting the bone and surrounding soft tissue. These neoplastic cells are the result of sporadic activating mutations in genes of the mitogen-activated protein kinase (MAPK) signaling pathway expressed by multipotent hematopoietic stem/progenitor cells or committed myeloid precursors [Langerhans cell histiocytosis (LCH) is a rare haematological neoplasm characterized by the accumulation of CD1aecursors –5. We prBRAFV600E mutation with a variant allele frequency ranging between 21–34% [BRAF alleles  [BRAFV600E was not detected in DNA extracted from myeloid or lymphoid cells isolated by flowcytometric sorting from a peripheral blood sample collected at the time of the fourth bone sample. Microbiological analysis of the bone and blood samples showed no signs of bacterial infection.A 46-year-old previously healthy woman was referred to the orthopedic surgeon because of progressive pain and dysmobility of her left shoulder since a few months. X-ray and magnetic resonance imaging (MRI) revealed an osteolytic lesion in the proximal humeral diaphysis of 2.3 × 2.0 × 4.0 cm Fig. A, B. Then 21–34% , 8 in thtal PCR) , BRAFV60The unusual and aggressive clinical course necessitated intensified therapy. Both systemic (chemo)therapy and RT are rational treatment options for osseous LCH lesions with surrounding soft tissue extension –4. TopicSince decades, RT is sporadically applied in adults for the treatment of (particularly) osseous LCH lesions . Rates oBRAFV600E mutation [BRAFV600E mutations have been found in approximately 50% of LCH cases [BRAFV600E mutation and clinical parameters has been suggested in pediatric LCH [NGS analysis performed on resected tissue collected at time of disease progression, and at 2 other time points in the disease course, consistently demonstrated the prototypical mutation . UnfortuCH cases . An assotric LCH , and thetric LCH . Given ttric LCH , which wBRAFV600E mutation, our case demonstrates that RT may be considered as a relative mild, yet effective, local treatment option for adult patients presenting with aggressive LCH involving the bone and/or soft tissues. Although RAF and MEK inhibitors are increasingly applied for refractory histiocytosis [We describe a case where localized RT for an aggressive unifocal bone LCH lesion with striking soft tissue extension led to a robust and durable complete response. Although the bone lesion with aggressively behaving soft tissue extension displayed a targetable ocytosis , reporteocytosis , 16 in p