A torted wandering spleen is a rare clinical occurrence with fewer than 500 cases reported and an incidence of less than 0.2%. It is brought about through laxity of the gastrosplenic and splenorenal ligaments; however, the precise aetiology remains unknown. It can prove to be a diagnostic challenge with high mortality if misdiagnosed.We present the case of a 27-year-old woman of Arabic ethnicity, who complained of a short history of severe abdominal pain with the background of recurrent abdominal pain and vomiting. An abdominal computerized tomography scan revealed a torted wandering spleen. This required a splenectomy due to splenic infarction.This report highlights the investigations and management necessary for a patient who presents with an ischaemic torted wandering spleen. A wandering spleen is a rare clinical occurrence with fewer than 500 cases reported and an incidence of less than 0.2% ,2. The sThe spleen is normally supported by the gastrosplenic, splenorenal and splenocolic ligaments, whereby failure of attachment of these ligaments to the spleen’s overlying peritoneum results in a hypermobile spleen ,4. All cA wandering spleen can be either congenital or acquired. In the congenital condition the ligaments fail to develop properly, whereas in the acquired form the hormonal effects of pregnancy and abdominal wall laxity are proposed as determining factors -7. In adA 27-year-old woman of Arabic ethnicity, presented to the emergency department with a 24-hour history of central abdominal pain which she described as a tight band spanning from her right lumbar region to her left lumbar flank. The pain was of sudden onset, scored 10/10 and exacerbated by movement and eating. There was associated vomiting; clear vomitus and no haematemesis. Her bowels were opening regularly and there was no reported blood in her stools.Prior to this, she presented to the emergency department four times within the last year, for a milder pain in her left iliac fossa radiating to her back, described as stabbing in nature. She did not have any lower urinary tract or any gynaecological symptoms. During these admissions she was treated for renal colic.Her past medical history entailed oesophageal gastric reflux with no history of any connective tissue disorders.On examination, she appeared in discomfort, was apyrexial but had a tachycardia of 117 beats per minute, with otherwise normal cardiorespiratory function.Her abdomen was soft, with generalised tenderness, but specifically more in her right iliac fossa and left upper quadrant. Rovsing’s sign was negative and bowel sounds were sluggish.9/L, neutrophils 14.8×109/L, her renal, liver function, amylase and lactate were within normal limits.On admission her haemoglobin was 11.7g/dL, white cell count 16.6×10An abdominal radiograph showed distended small and large bowel loops in the left upper quadrant and paucity of bowel gas in the rest of the image. A chest radiograph was normal.She was resuscitated with intravenous fluids, given analgesia, antiemetics and started on antibiotics on the basis of an initial diagnosis of appendicitis, because the most tender point in her abdomen was in the right iliac fossa. However, further imaging was requested as the distribution of large bowel gas on the abdominal radiograph seemed abnormal.An ultrasound (US) of her abdomen showed free fluid throughout her abdomen and pelvis. In the midline of her abdomen was a homogenous mass which resembled the spleen; no blood flow could be elicited on Doppler. The left upper quadrant contained no splenic tissue.An urgent computed tomography (CT) was done Figures  and 2 whShe was prepared for urgent laparotomy with findings of an infarcted wandering spleen in her mid-abdomen. Her spleen was enlarged to 20cm at its maximum diameter due to venous congestion and resultant infarction. There were no ligamentous attachments to her spleen and the tail of her pancreas was attached to the hilar vessels of her spleen which were on a long mesentery. The infarct was due to 360° twisting of the splenic hilum around the tail of her pancreas. Of note her caecum, right and transverse colon were dilated but there was no obstruction, and her small bowel and appendix were normal Figures , 5 and 6Her spleen was unrotated, her hilar vessels were divided close to her spleen with LigaSure™, taking care to preserve the tail of her pancreas, and a splenectomy was performed. The ends of her hilar vessels and pancreatic tail were closed with 1.0 Vicryl sutures. A saline washout was done, and a left Robinson drain was left at the pancreatic tail site, and a right Robinson drain left in her pelvis.The histology report concluded that within her spleen there was extensive haemorrhagic tissue with a few small residual lymphoid aggregates. A few blood vessels with neutrophilic infiltration were present and the hilum showed blood vessels with minimal intraluminal neutrophilic exudate and neutrophilic infiltration of the vessel wall. In addition there was a surrounding small abscess formation within the hilar tissue. The features were consistent with splenic infarction of ischaemic origin. However, there was no evidence of granuloma or malignancy.Her postoperative recovery was good; she was started on long-term penicillin V and was given Haemophilius influenza type B, meningococcal and pneumococcus vaccinations 2 weeks after her splenectomy. She was also commenced on long-term aspirin for postsplenectomy thrombocythaemia. The drains were removed after her amylase level was checked and found to be within normal serum levels.A literature review conducted by Buehner and Baker  concludeSymptoms may remain quiescent over long periods, but complications are related to torsion or compression of abdominal organs . These cA wandering spleen usually presents between the ages of 20 and 40 years, being more common in women ,10. ChilUS imaging with duplex scanning can be used as an initial mode of imaging which can show the position of the wandering spleen with concomitant replacement of bowel in the left upper quadrant . CT contSplenopexy is the choice of treatment if the spleen is not infarcted but a splenectomy proceeding detorsion is necessary if there is any sign of infarction ,11-13. TThe wandering spleen is a rare differential diagnosis of an acute abdomen but must be considered if a patient presents with abdominal pain associated with a palpable mass and displacement of bowel loops to the left upper quadrant. The best method of confirming the diagnosis seems to be a CT scan, however, US imaging is an equally helpful modality.Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.CT: Computed tomography; US: Ultrasound.The authors declare that they have no competing interests.AS made substantial contributions to: conception, design, acquisition of data, analysis and interpretation of data and was involved in drafting the manuscript. GS was involved in revising the manuscript critically for important intellectual content. Both authors read and approved the final manuscript.


The nasolabial cyst or Klestadt cyst is a relatively uncommon nonodontogenic cyst that develops in the nasal alar region; it has uncertain pathogenesis. This lesion has slow growth and variable dimensions and is characterized clinically by a floating tumefaction in the nasolabial fold area around the bridge of the nose, causing an elevation of the upper lip and relative facial asymmetry. Diagnosis is primarily made clinically; if necessary, this is complemented by imaging. This paper reports the case of a 39-year-old male patient who complained of pain in the right upper premolar region and poor aesthetics due to a firm tumor in the right wing of the nose. Initially, this was thought to be due to an odontogenic abscess; however, the differential diagnosis was that a nasolabial cyst was communicating with the apex of teeth 14 and 15. Surgical treatment was carried out, followed by histopathological examination and concomitant endodontic treatment of the teeth involved. Nasolabial cysts can be considered as lesions that are not odontogenic and that affect the soft tissues of the nasal vestibule, canine fossa, and upper lip. These effects are unilateral to the midline of the upper lip and the base alar –4. Nasol mucoid cyst, maxillary cyst, wind cyst, nasovestibular cyst, subalar cyst, and nasoglobular cyst. Neville et al. [ nasoalveolar cyst, defining it as a lesion located between the soft tissues of the upper lip and nasal vestibule.The nasolabial cyst was studied by Klestadt in 1953 , and theThe pathogenesis of this lesion is uncertain, and there are several theories for its origin. The most accepted current theory is that the cyst originates from epithelial remnants trapped along the fusion of the lateral nasal processes with the median and the jaw; other theories speculate that it is a fissure cyst or that it originates from the deposition of the nasolacrimal duct epithelium .Clinically, a nasolabial cyst is characterized by an increase in the volume of the unilateral nasolabial area causing an elevation of the bridge of the nose and superior lip projection ; in someThe diagnosis is usually based on clinical outcomes and can involve imaging tests like X-ray, computed tomography (CT), and magnetic resonance.The treatment of nasolabial cysts can be accomplished with a fine aspiration needle or through incision and drainage, cystic enucleation for intraoral access, marsupialization, use of endoscopic , 11 or sThe aims of this paper are to present a case study of the treatment of a nasolabial cyst and discuss the diagnosis and characteristics of the lesion.The patient, a Caucasian, 39-year-old male, entered the emergency department at the State University of Ponta Grossa complaining of an increase in the size of the paranasal sinuses on the right side and of diffuse pain in the teeth in the same region; the patient also complained of poor aesthetics due to swelling for several months. During the intraoral clinical examination, palpation revealed an increased volume close to the bottom groove region Figures , and 3. Bringing together the clinical characteristics with the radiographic images, a diagnosis of endodontic abscess was made, for which the emergency procedure involved opening and endodontic instrumentation in teeth 14 and 15 and prescriptions for diclofenac potassium (50 mg for 2 days) and amoxicillin (500 mg for 7 days). The aim was to reduce local swelling and other symptoms. Two days later, the patient returned to carry out an exchange of intracanal medication and receive endodontic reinstrumentation on both teeth. After 8 days, as no decrease in the lesion was observed and the patient complained of pain, another exchange of intracanal medication was carried out. The following were prescribed: amoxicillin (875 mg) and clavulanate potassium (125 mg) for 7 days and dipyrone sodium (500 mg) for 2 days.After another 7 days, the patient returned with similar symptoms. Fistula tracking with gutta-percha points was then made, followed by radiographic examination, which confirmed that the periapical lesions in question actually came from teeth 14 and 15. The intracanal medication was switched again, and a pulp sensitivity test was conducted on all upper teeth; beyond those in question, teeth 21, 11, and 12 also did not respond to the test. These results were forwarded to endodontics, since besides the sensitivity test these teeth were seen to be darkened, which is compatible with pulp necrosis.Because endodontic treatment has not shown the desired effect or remission of early symptoms, complete blood count and fasting glucose have been invited to check systemic condition and immune ability of the patient. Nothing abnormal in laboratory tests was observed; a diagnosis of nasolabial cyst in the right facial region with possible communication with the roots of the teeth 14 and 15 was raised. After 1 week, a further change to the intracanal medication was made due to a lack of remission in the initial symptoms.Given that after this period the symptoms had not deteriorated, surgical treatment of the case was then proposed. This was initially performed using aseptic face PVPI to prepare the surgical field after local anesthesia of the infraorbital nerve and the cellular anterior nasopalatine region using three tubes of mepivacaine (2%) and epinephrine . First, the cystic lesion contents were aspirated , followeWe found in the swelling an oval, whitish, noninfiltrating lesion ; it had The lesion was properly stored and sent to clinical pathology for analysis, and the patient received a prescription for anti-inflammatory postoperative medication (600 mg ibuprofen for 3 days). The outer immediate postoperative appearance of the patient may be observed in The clinical pathology analysis showed that the specimen consisted of a fibrous cyst wall with a light-coated cylindrical pseudostratified epithelium enclosing mucous-secreting goblet cells and inflammatory cells (due to the constant cystic contamination), which were seen communicating with the periapical region of the right premolars, as previously described. After examination, the diagnosis of a nasolabial cyst was confirmed.Postoperative controls were made at 7 days , 15 daysThis case report illustrates the most common features found in patients affected by nasolabial cysts, which corroborates previous studies , 7, 12. The patient reported growth of the injury within a few months, along with painful symptoms, unlike what is commonly found , 6, 8, aRegarding the preference for race, the present case also differs from the literature, as dark-skinned people have shown the highest number of occurrences with respect to age and gender , 14. In The diagnosis of nasolabial cysts is almost exclusively clinical, in which bidigital palpation of the region is essential and should be careful , 6, 12. Dermal and epidermal cysts should also be considered in the differential diagnosis, although these are associated with the yellowing of the overlying mucosa; in cases of nasolabial cysts, they hold to your labial mucosa with normal color or bluish color, due to the presence of local vascularization and depending on their size , 12, 15.El-Din and el-Hamd  reportedRegarding treatment of the injury, most studies have reported enucleation as the treatment of choice for nasolabialis , 10, 12 As for the cyst aspiration procedure, which aims to assess the possible presence of cholesterol crystals, remove odontogenic injuries, and enable injection of radiopaque solution, this method was contraindicated by some authors because it may increase the risk of lesion recurrence –14, 16, In our patient, the histopathology was not entirely consistent with what we usually see in the histology of nasolabial cysts ; due to This paper presented clinical characteristics and histological findings consistent with a nasolabial cyst despite the framework that was initially described as being only of dental origin. This soft tissue injury should always be considered in the differential diagnosis when there is swelling in the soft tissue of the nasal alar region. The treatment in this case covers endodontic conduct in conjunction with surgical excision of the lesion; the treatment was conservative, as this type of lesion is a rare recurrence.


Giant retroperitoneal uterine leiomyomas are uncommon. Degenerative changes of a leiomyoma may lead to unusual presentation resulting in misdiagnosis preoperatively. The final diagnosis can be made either intraoperatively or histologically. We report a 45-year-old multiparous women presented with abdominal distension and fatigue for six months. Abdominopelvic Sonography and computed tomography showed a large cystic mass that filled the pelvis and abdomen. With the preoperative diagnosis of a malignant tumor, a laparotomy was planned. Intraoperatively, a cystic mass originated from the uterus near the left side of the broad ligament extending to the retroperitoneal space was observed. Total hysterectomy and bilateral salphingo-oopherectomy was administered. The histology revealed a leiomyoma with cystic degeneration. Retroperitoneal leiomyomas should be kept in mind in the diferrential diagnosis of a giant cystic mass in abdomen. Leiomyomas are common bening tumors in females of reproductive age that arise from uterine smooth muscle . The sizA 45-year-old, multiparous woman admitted to Erzincan University Hospital in 2013 with a history of abdominal distension and fatigue for six months. Her menstruel cycle was regular. She had no history of a serious illness and surgery. Physical examination revealed a huge semi-mobil abdominal mass that caused distension. No abdominal tenderness was present. Uterus and bilateral adnexes could not be palpated because of the mass. Vital signs were normal. An abdominal sonogram revealed a large cystic mass with multiple septations occupying the whole abdomen. It was difficult to understand the origin of the mass and its nature. Uterus and endometrium was normal, but bilateral ovaries could not be detected. An abdominopelvic computed tomography (CT) showed a huge cystic mass with multiple septations, approximately 30x26x17 cm in size, occupying the abdomen from pelvis to the upper abdominal cavity. The tumor superiorly deplased the bladder and uterus, laterally compressed the small intestine . The labAfter four units of blood transfusion, laparotomy was attempted. An abdominal midline xiphopubic vertical insicion was made. At laparotomy, we observed a large, multilobated and predominantly cystic retroperitoneal tumor that originated from broad ligament and extended to the xyphoid with occupying the whole pelvis. Adhesions between the mass and posterior of the transverse colon were noted. Uterus was in normal size but displaced up in the right of the pelvis and bilateral ovaries were normal. A total abdominal hysterectomy and bilateral salphingo-oopherectomy was performed after en-bloc resection of the tumor. There was no serious bleeding. A drain was packed into the pelvis after obtaining hemostasis. The drain was removed on the third post-operative day and the patient was discharged 10 days after the operation in excellent condition. The resected periadnexial mass that was adjacent to the posterior of the uterus (14x8x5 cm) and normal ovaries , was resThe cystic portions contained serous fluid. Microscopic examination revealed a multilobulated leiomyoma with cystic degenerative changes. Histopathologically, it was observed that the cystic areas were surrounded by the smooth muscle cells . HistoloUterine leiomyomas are highly prevalent bening tumors affecting 25% of women in reproductive age . They caThe diagnosis of a bening retroperitoneal tumor includes leiomyoma, mature teratoma, schwannoma, lipoma, lympangioma, and neurofibroma. The incidence of leiomyoma among them is 0.5-1.2% , 7. SubsCystic degeneration, observed in approximately 4% of leiomyomas, may be considered extreme sequelae of edema . HoweverHowever, in our case, the patient had no previous abdominal operation and a concurrent uterine leiomyoma. More investigations are needed to identify the exact etiology. Generally, a uterine leiomyoma has a typical appearance on imaging. However, the atypical appearances followed by degenerative changes can cause confusion in diagnosis. When uterine leiomyomas with cystic degeneration show retroperitoneal growth, it is difficult to diagnose them preoperatively with imaging techniques like USG, CT, and MRI. In most of the published case reports, these tumors were clinically diagnosed as retroperitoneal growths with the suspicion of adnexal malignancy without suspecting leiomyoma , 14-17. Preoperative diagnosis of a retroperitoneal leiomyoma with cystic degeneration can be difficult because of the rarity, and uncommon sonographic appearance of this tumor. We presented an unusual case of a giant cystic leiomyoma that originated from the uterus near the right side of the broad ligament extending to the retroperitoneal space. Leiomyomas should be considered in the differential diagnosis of a cystic retroperitoneal mass.There is no conflict of interests of each author.


First described in 1768, the Pott's puffy tumor is a subperiosteal abscess associated with frontal bone osteomyelitis, resulting from trauma or frontal sinusitis. The classic clinical presentation consists of purulent rhinorrhea, fever, headache, and frontal swelling. The diagnosis is confirmed by CT scan and treatment requires intravenous antibiotics, analgesia, and surgical intervention. Early diagnosis and aggressive medical and surgical approach are essential for a good outcome. It rare and the early diagnosis is important; we describe the case of a 14-year-old adolescent with Pott's puffy tumor who was initially treated inadequately, evolving with extensive frontoparietal abscess. The patient underwent surgical treatment with endoscopic endonasal and external approaches combined. Intravenous antibiotics were prescribed for a prolonged time, with good outcome and remission of the complaints. The sinusitis suppurative complications are rare events but have high morbidity and mortality. Frontal bone osteomyelitis associated with subperiosteal abscess, also known as Pott's puffy tumor, is an example of such complications and can occur due to trauma or frontal sinusitis. First described by Percival Pott in 1768, it is a rare clinical entity, especially after antibiotics development. It affects most frequently the pediatric and immunologically compromised patients .Patients classically present with complaints of purulent rhinorrhea, frontal headache, fever, vomiting, and frontal swelling , 3. CompHere we report the case of an adolescent with extensive frontoparietal abscess secondary to frontal sinusitis, with good outcome after treatment.A 14-year-old male adolescent, with no significant past medical history, presented at an otorhinolaryngology department of a tertiary teaching hospital with a 7-day history of a common cold that progressively evolved with frontal headache, vomiting, fever, purulent rhinorrhea, and frontal and periorbital swelling. He had been treated in another service where he remained hospitalized for eight days, being started on amoxicillin-clavulanate 3 g/day for seven days with partial improvement of periorbital edema. He maintained, however, daily fever and progressive worsening of the frontal swelling.Physical examination on admission revealed extensive painful and fluctuant swelling of the forehead and parietal region, periorbital edema, and spontaneous purulent lacrimal discharge . AnterioPatient underwent CT scan of the paranasal sinuses which showed the following changes: erosion of anterior table of the frontal sinus, frontal, maxillary, and anterior ethmoid sinuses opacification, subcutaneous emphysema, and soft tissue swelling of the forehead and parietal region.Due to the abscess extension, the patient was opted for surgical drainage with combined approach , with drainage of approximately five hundred milliliters of thick purulent fluid sent for culture . Intraop Streptococcus constellatus susceptible to multiple antibiotics. He was prescribed intravenous antibiotic therapy throughout hospitalization, treated with metronidazole 2 g/day for five days associated with vancomycin 2 g/day and ceftazidime 6 g/day maintained for 18 days. The combination of antibiotics was initially chosen guided by common microorganisms associated with this entity and adjusted according to results of antibiogram, with suspension of metronidazole. Due to suspicion of adverse drug reactions, the antibiotics were exchanged for ampicillin-sulbactam, maintained for seven more days. He was discharged on the 25th postoperative day asymptomatic and with normal physical examination, showing no new complaints in the follow-up so far (The patient was admitted to the intensive care unit and recovered well postoperatively, afebrile, and with remission of complaints. Culture grewp so far .Percival Pott was the first to describe Pott's puffy tumor as an indolent and circumscribed tumor of the scalp with spontaneous separation of the pericranium from the skull under such tumor . It mainAlthough initially described by Pott as a complication of trauma, this pathological process is developed most commonly as a complication of frontal sinusitis, with reports of other mechanisms such as insect bite , 3.As this is a rare condition, it is usually diagnosed late, which favors the development of complications. Intracranial complications are observed in 60–100% of patients. Among these, there are reports of intracranial abscess, subdural and epidural empyema, cavernous sinus thrombosis and meningitis , 5. In tIn most cases, the clinical presentation consists of frontal headache, periorbital edema, purulent rhinorrhea, fever, and vomiting; all of these are reported by our patient , 3. The  Staphylococcus aureus, Streptococcus, and anaerobes, with rare involvement of Proteus, Fusobacterium, Bacteroides, and Pseudomonas [ Streptococcus constellatus, a commensal microorganism present in oropharyngeal flora and gastrointestinal and genitourinary tracts.Culture is important to isolate the agents involved and guide appropriate antibiotic therapy, usually revealing polymicrobial involvement , 2. The udomonas , 5. In oThe management of Pott's puffy tumor requires intravenous antibiotics, analgesia, and surgical intervention in cases of persistent or worsening symptoms. The surgical approach may be external approach, endoscopic, or combined . IntraveWith modernization of surgical techniques, endoscopic endonasal treatment has become an excellent option in the management of Pott's puffy tumor, although there are few cases reported in the literature and the anatomy of frontal recess is complex . HoweverWe present a case of Pott's puffy tumor associated with extensive frontoparietal abscess. Although considered a rare entity with the advent of antibiotics, there must be a high suspicion of this complication. Early diagnosis and aggressive medical and surgical approach are essential for a good outcome.


It is often challenging to completely resect multinodular/plexiform schwannomas involving important deep nerves using minimally invasive surgically techniques.A 32-year-old woman presented with a 5-year history of a slowly growing, painful mass in the medial aspect of the right ankle. Magnetic resonance imaging (MRI) demonstrated multiple nodular lesions with iso-signal intensity relative to skeletal muscle on T1-weighted sequences and heterogeneous high signal intensity on T2-weighted sequences. Mild to moderate enhancement was identified after gadolinium administration. All 58 tumors were completely enucleated using an intracapsular technique. Histological examination confirmed the diagnosis of schwannoma consisting mainly of Antoni A areas. The burning sensation was relieved immediately after surgery. The patient had no aggravated neurological deficit and was very satisfied with the outcome of the treatment at final follow-up.We experienced a very rare case of a large multinodular/plexiform schwannoma arising from the posterior tibial nerve and its larger terminal branch. Our case had the characteristic MRI features of this condition. It is extremely important to differentiate multinodular/plexiform schwannoma from plexiform neurofibroma and malignant peripheral nerve sheath tumor, with complete surgical enucleation being curative.MRI is a clinically useful modality in the evaluation and detection of deep-seated multinodular/plexiform schwannoma. Intracapsular enucleation seems to be an acceptable treatment for this peculiar tumor located in the foot and ankle. Multinodular/plexiform schwannoma, first described in by Harkin et al , is an eA 32-year-old woman was referred to our hospital with a 5-year history of a slowly growing, painful mass in the medial aspect of the right ankle. There was no history of antecedent trauma. A family history of NF2 or schwannomatosis was not evident. The patient’s past medical history was unremarkable. On physical examination, an elastic-hard, poorly mobile, tender mass was noted in the medial aspect of the ankle Figure , with exFollowing an open biopsy, the surgical enucleation was performed under general anesthesia with pneumatic tourniquet control and loupe magnification. The patient was placed in the supine position. The skin incision was made in the center over the tumor and extended along the course of the posterior tibial nerve and its larger terminal blanch  Figure a. The tuThe postoperative course was uneventful. The burning sensation was relieved immediately after surgery. The sutures were removed 2 weeks after surgery, by the same time the patient started progressive weight bearing. The patient then resumed full weight bearing activities within 6 weeks. At 5 months postoperatively, the patient had excellent pain relief and no aggravated neurological deficit except for mild hypoesthesia in the medial plantar aspect of the foot . It can be present at birth or develop within the first year of life Korf . There iLimitations of this case study are lack of electrophysiological information and short postoperative follow-up.We have described the rare case of a large multinodular/plexiform schwannoma involving the posterior tibial and medial plantar nerves in a young adult woman. MRI is a clinically useful modality in the evaluation and detection of deep-seated multinodular/plexiform schwannoma. Intracapsular enucleation seems to be an acceptable treatment for this peculiar condition of the foot and ankle.Written informed consent was obtained from the patient for the publication of this report and any accompanying images.


Cavernous angiomas of the spinal cord are rare vascular malformations, which account for approximately 5 to 12 percent of spinal cord vascular lesions. They usually originate in the vertebrae, with occasional extension into the extradural space, and intramedullary cavernomas, even if reported in the literature, are very rare.We report the case of a 34-year-old Caucasian woman affected by a thoracic intramedullary cavernous angioma. Our patient complained of 10-day history of acute dorsal pain, progressive weakness of both lower extremities, worse on the right side, a ‘pins and needles’ sensation in the abdominal region and bladder dysfunction. Magnetic resonance imaging showed, at D5 level, a vascular malformation, which was not documented at spinal angiography. Our patient underwent surgical treatment with total removal of the lesion and her symptoms gradually improved. A histological examination revealed the typical features of a cavernous angioma.Intramedullary cavernous angioma is a rare lesion that should be diagnosed early and surgically treated before rebleeding or enlargement of the lesion can occur. Cavernous angiomas are uncommon vascular malformations of the central nervous system (CNS) characterized by abnormally dilated blood vessels, lined by a thin endothelium without intervening normal nervous tissue. They are more common in women and tend to become clinically symptomatic during the third and the fourth decade of life . In the Since the advent of magnetic resonance imaging (MRI), large series of these relatively rare lesions have been reported with increasing frequency, allowing a better understanding about epidemiology, natural history, clinical presentation, and surgical results -12.Here, the authors describe the clinical, neuroradiological, and surgical features of a new case of intramedullary cavernous angioma in the thoracic spinal cord.A 34-year-old Caucasian woman was admitted complaining of a 10-day history of acute thoracic pain, progressive weakness of both lower extremities, worse on the right side, a ‘pins and needles’ sensation in the abdominal region, and bladder dysfunction. A neurological examination revealed spastic paraparesis, symmetrically decreased lower-extremity reflexes in her legs, a bilateral positive Babinski sign and decreased pinprick sensation below D6 level.Our patient underwent an MRI scan of the spine, which revealed an intramedullary lesion at D5 level with high-intensity signal relative to the spinal cord on T1-weighted images, spindle-like shaped and 1.5cm in diameter Figure a. The leCavernous angiomas are angiographically occult vascular malformations of the central nervous system characterized by closely, abnormal, dilated thin-walled sinusoidal spaces, lined by a single layer of endothelium and lacking in intervening nervous tissue . These vIn the spine, cavernomas account for 5 to 12 percent of all spinal vascular anomalies, and they usually arise within the vertebral bodies with occasional extension into the extradural space . AccordiSpinal intramedullary cavernous angiomas may be asymptomatic, accidentally found at autopsy in patients with multiple cavernous angiomas, or may have variable patterns of clinical presentation. Progressive neurological deterioration can be confused with demyelinating pathologies, myelitis, intramedullary tumors, and spinal arteriovenous vascular malformation . SubaracEarly surgery with total removal of the malformation should be the goal when approaching these spinal lesions, before enlargement or rebleeding can occur. Intraoperative somatosensory and motor-evoked potential monitoring is used. A subtotal resection should be considered when neurological function is at risk, since rebleeding of the residual lesion can occur.At surgery, an area of discoloration, swelling or presence of anomalous vascular reticule may often be observed on the surface of the spinal cord. A myelotomy performed over these anomalies usually allows the identification of the lesion within the spinal cord. In our case, a area of swelling was detected over the dorsal surface of the thoracic spinal cord at D5-D6 level. A midline cordotomy revealed a well-circumscribed dark-bluish lesion deep within the spinal cord. The lesion was carefully dissected out and removed in one piece.A follow-up MRI examination is required to confirm complete removal of the cavernous angioma.Intramedullary cavernous angiomas are rare lesions. Early diagnosis and proper treatment can prevent bleeding and dangerous enlargement of the lesion.Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.The authors declare that they have no competing interests.GG prepared and drafted the manuscript and performed the literature research. CA edited the manuscript and performed the literature research. FG edited the manuscript and performed the literature research. MC edited the manuscript. FMS edited the manuscript. FT performed the operation and was involved in the editing of the manuscript. All authors read and approved the final manuscript.


While renal cell carcinoma is the most commonly diagnosed neoplasm of the kidney, its simultaneous diagnosis with a gastrointestinal malignancy is a rare, but well reported phenomenon. This discussion focuses on three independent cases in which each patient was diagnosed with renal cell carcinoma and a unique synchronous gastrointestinal malignancy. Case 1 explores the diagnosis and surgical intervention of a 66-year-old male patient synchronously diagnosed with clear cell renal cell carcinoma and a carcinoid tumor of the small bowel. Case 2 describes the diagnosis and surgical intervention of a 61-year-old male found to have clear cell renal cell carcinoma and a mucinous appendiceal neoplasm. Lastly, Case 3 focuses on the interventions and management of a 36-year-old female diagnosed with synchronous clear cell renal carcinoma and hereditary nonpolyposis colorectal cancer. This case series examines each distinct patient's presentation, discusses the diagnosis, and compares and contrasts the findings while discussing the literature on this topic.  Renal cell carcinoma (RCC) is the most common neoplasm of the kidney, affecting 15.5 people per 100,000 men and women each year and accounting for only 3.8% of new cancer cases diagnosed annually in the United States . AlthougThis discussion utilizes the Warren and Gates definition to identify synchronous tumors: each tumor must present with a definite picture of malignancy, each must be distinct, and the possibility that one is a metastasis of the other must be excluded . The etiIt has been well reported that RCC is associated with other primary malignancies, including prostate, bladder, and rectal cancers, as well as non-Hodgkin's lymphoma . We repoA 66-year-old man presented to the clinic with a history of acute onset right lower quadrant abdominal pain, hematuria, and flank pain. General physical examination revealed no significant findings. The patient's family history revealed his mother had both thyroid and colon cancer, though the details of each were unknown.Initial laboratory findings included mild iron deficiency anemia with elevated white blood cell count, increased BUN and creatinine, and a urine analysis positive for blood and protein. Abdominal CT scan revealed a hypervascular multilocular solid renal mass that had compromised Gerota's fascia and was occupying the right renal vein. Also noted on CT scan was an enhancing partially necrotic solid nodule within the left mesentery, as well as multiple diminutive ill-defined hepatic lesions. en bloc resection was performed with primary anastomosis and ultrasound-guided liver biopsies.The patient then underwent a right radical nephrectomy with tumor thrombectomy and retroperitoneal lymph node dissection. During intraoperative inspection of the mesenteric region, an ileal mass was encountered, and anEvaluation of the nephrectomy specimen revealed a 7 cm Fuhrman grade 2 clear cell RCC invading the renal vein with lymphovascular invasion and clear surgical margins without invasion of Gerota's fascia or the renal sinus (T3aN0M0) . The resA 61-year-old man presented with constant dull right lower quadrant pain associated with fatigue and malaise. Initial CT scan showed an enlarged appendix and a partially exophytic, enhancing mass located in the upper pole of the left kidney with an enlarged para-aortic lymph node . The patInitial examination of the patient revealed an asymptomatic well-developed man. Besides a past medical history of hypertension, the patient was otherwise healthy. Upon physical examination, findings included bilaterally descended testes, left grade II varicocele, and lack of lymphadenopathy or hernia. The patient's family history was insignificant. The patient's CBC and serum chemistry panel were normal. Urinary analysis found 3 RBCs per high-power field but was otherwise normal.The patient then underwent left-sided robotic-assisted partial nephrectomy with para-aortic lymphadenectomy. Histological findings of the renal mass confirmed a 3 cm Fuhrman grade 3, clear cell RCC limited to the renal parenchyma with negative margins. Resection of lymph nodes revealed 0/6 perihilar and 1/14 para-aortic nodes with metastasis. He was, therefore, staged as a T1aN1M0. Following removal of tumors, the patient recovered without complication. A follow-up CT scan was performed four months postoperatively and showed no evidence of metastasis. The patient is currently in good health and has no evidence of disease at four-month follow-up.A 36-year-old female initially presented for evaluation of a left supraclavicular neck mass. The patient underwent fine needle aspiration of the mass, which revealed adenocarcinoma favoring renal cell. CT scan of the chest, abdomen, and pelvis revealed a large left renal mass 9 cm in diameter. The scan incidentally also detected a possible filling defect in the transverse colon. The patient underwent colonoscopy, and a mass was visualized and biopsied. Histological examination found the mass to be positive for invasive adenocarcinoma.Physical examination of the patient revealed an overweight woman with a past medical history of hypertension. The patient denied any changes in bowel habits or urinary complaints other than intermittent left flank pain. The patient reported that her family history was negative for cancer or polyps. General physical examination revealed a small nodule palpable in the left supraclavicular region of the patient's neck. Laboratory findings were normal except for presence of iron deficiency anemia.The patient then underwent left radical nephrectomy with periaortic lymphadenectomy and extended right hemicolectomy. Histological examination of the left kidney confirmed a 7.5 cm Fuhrman grade 4, clear cell RCC limited within Gerota's fascia with no lymphovascular invasion. The tumor was present in 5/5 periaortic lymph nodes that were resected (T2aN1Mx). The resected large bowel specimens demonstrated tubular adenoma present in the cecum and hepatic flexure; also noted was moderately differentiated invasive adenocarcinoma extending into the submucosa of the transverse colon (T1N0M0) . MicrosaShe was started on sunitinib postoperatively but failed therapy after developing bilateral malignant pleural effusion and malignant disease progression and was subsequently given temsirolimus.After one month, postoperative CT scan revealed local recurrence in the kidney bed, suggesting highly aggressive cancer. Imaging also found enhancing enlarged supraclavicular lymph nodes extending cranially along the jugular chain and caudally into the mediastinum. This finding was strongly suggestive of metastatic disease. PET scan was performed and confirmed diffuse nodal metastasis throughout the thorax and neck. She then underwent chest wall biopsy and pleurodesis using video-assisted thoracoscopic surgery, the results of which confirmed malignant RCC. The patient died approximately one year following initial resection.The occurrence of synchronous malignancies has been well established in the literature. In the case of RCC, multiple primary malignancies associated with this neoplasm have been the focus of many studies within the past decade. Beisland et al.  used theThe etiology and pathogenesis of multiple primary malignancies have yet to be explained. It has been thought that interplay of genetic and environmental risk factors common to both cancers could cause multiple malignancies to arise. Common risk factors include tobacco, pollution, ultraviolet light, therapeutic chemotherapy and radiotherapy, and endocrine factors. It is thought that these factors may act individually or in combination . InteresConsidering the three cases presented, each patient did not smoke and had no prior medical illness that could point to a common risk factor. The patient presented in Case 1 reported a family history of thyroid and colon cancer. A possible underlying genetic variation may have been present, although no genetic testing was performed on either the first or the second patient presented. The third case discussed demonstrates a well-established genetic predisposing factor. Individuals with HNPCC are known to have various mismatch repair genes that are functionally affected, with patients having 80% lifetime risk of developing colon cancer , as wellA common finding among the three clinical cases presented was that, in each case, the renal malignancy was aggressive clear cell RCC. This may be a coincidental finding, as clear cell is the most common form of RCC . Others Current guidelines by the American Urological Association regarding the management of clinical stage 1 renal masses lack an explicit recommendation for clinicians to be aware of the possibility of a secondary primary malignancy . However


Mammary-type myofibroblastoma of the soft tissue is a very rare, benign, mesenchymal neoplasm with myofibroblastic differentiation. To date, 20 cases of extra-mammary myofibroblastoma have been described in literature. To the best of our knowledge, this is the largest extra-mammary myofibroblastoma described in the literature, and the first case reported in this location.A 50-year-old Pakistani man presented with a long history of a painless, huge lump on his right thigh. His clinical examination showed normal-looking skin and there was no inguinal lymphadenopathy. The mass was excised with a clinical impression of soft tissue sarcoma. Gross examination showed a huge, well-circumscribed soft tissue mass measuring 34cm in its largest dimension and weighing approximately 13kg. It was partially covered by fat tissue. Histologically, the lesion was composed of a haphazard arrangement of bland spindle-shaped cell fascicles in a thick collagenous and myxoid background. The neoplastic cells showed diffuse and patchy positivity for CD34 and desmin, respectively. No recurrence was seen following surgical excision over a follow-up period of five months.Mammary-type myofibroblastoma of the soft tissue is a benign soft tissue neoplasm, and no malignant behavior and/or recurrence after surgical resection has been described, regarding its size and location. As an extremely rare tumor, the correct diagnosis and prompt management is important, and requires careful clinical and pathological workup to rule out the possibility of a malignant neoplasm. The lesion was first described in 1987 by Wargotz  [et al. . The mos [et al. ; however [et al. . This tu [et al. ,5. The sA review of the literature revealed a total 20 cases of extra-mammary myofibroblastoma described to date, with a slightly male predilection ,5-13. ThA 50-year-old Pakistani man presented to a tertiary care hospital with a long-standing history of a mass in his right thigh. His physical examination revealed a huge bulging mass on the medial side of his right thigh. No inguinal or any other local lymphadenopathy was present. A clinical impression of the soft tissue sarcoma was made and surgical excision of the mass was planned. Peroperatively, the mass was circumscribed, encapsulated and well-demarcated from underlying muscles, with no invasion of underlying tissues. Upon gross examination, the mass was well-circumscribed, firm in consistency, and measured approximately 34×28×22cm and weighed approximately 13kg , and slight male predominance (M:F ratio = 1:0.7). Classically, these tumors are mostly slow growing, and form painless masses. The average reported tumor size was 5.5cm (range 2 to 13cm), and most of the reported tumors were small and discovered incidentally. Most cases were reported in the pelvic area: five cases in the inguinal area , two in The mammary-type myofibroblastomas described in the literature are well-circumscribed, un-encapsulated masses, consisting of spindle-shaped cells haphazardly arranged in fascicles of various sizes, along with bands of hyalinized thick collagen in the background. Intralesional fat lobules are also seen, and intranuclear grooves have been described ,2. It haFor the proper diagnosis of mammary-type myofibroblastoma in soft tissue outside the milk-line, clinicopathologic correlation is needed. Clinically, these tumors present as slow growing, painless masses, without evidence of local lymphadenopathy, in middle-aged patients. Pathologically, careful gross examination is essential to detect the presence or absence of necrosis, a fibrotic component, hemorrhage, and so on. Extensive sectioning for microscopic examination is essential in order to rule out the presence of cellular atypia or mitosis. Positive expression for immunostaining for CD34 and desmin is helpful in reaching a correct diagnosis.The importance of mammary-type myofibroblastoma, regardless of size or location, primarily lies in its definition as a distinctive benign neoplasm, which should not be confused with malignant soft tissue neoplasms, such as stromal sarcoma, undifferentiated pleomorphic sarcoma , spindle cell carcinoma, and so on ,13.The differential diagnosis includes both benign and malignant neoplasms. It is most often confused with spindle cell lipoma; however, other benign lesions such as angiofibroma, angiomyofibroblastoma, soft tissue perineurioma, and nodular fasciitis should also be considered and excluded . Both spTumors with uncertain behavior, such as lipomatous hemangiopericytoma and solitary fibrous tumor, and malignant tumors, such as low-grade spindle cell liposarcoma, low-grade peripheral nerve sheath tumor, and dermatofibrosarcoma protuberans, should also be considered in the differential diagnosis. Most of these entities can be eliminated from consideration with careful attention to histologic features. Of those listed, solitary fibrous tumor histologically is perhaps the closest mimic of mammary-type myofibroblastoma. Solitary fibrous tumor has a more prominent hemangiopericytomatous vasculature, and is also immunohistochmically positive for signal transducer and activator of transcription 6 (STAT6) protein .Mammary-type myofibroblastoma of the soft tissue is a benign, soft tissue neoplasm, and no malignant behavior and/or recurrence after surgical resection has been described in the cases reported so far. As an extremely rare tumor, the correct diagnosis and prompt management is important, and requires careful clinical and pathological workup and extensive sectioning after surgical excision to demonstrate the presence or absence of necrosis, mitosis, or nuclear atypia, and thus rule out a malignant neoplasm.Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.


Primary hemangioendotheliomas (HEs) of the spleen are rare, low-grade borderline-malignant vascular tumors. To date, only a few splenic HE cases have been reported in adults. In infants, one 9-year-old male patient has previously been reported, and the patient succumbed to the disease shortly following surgery. Currently, the clinical treatment and prognosis of the disease remains challenging to define, due to the extremely low number of cases reported. The current report presents the case of a 9-year-old pediatric patient with splenic HE, who survived with no recurrence or complications following a partial splenectomy. Additionally, a literature review was conducted to analyze the treatment and prognosis of the disease. The term ‘hemangioendothelioma’ (HE) has been used to describe a heterogenous group of vascular neoplasms, which are intermediate between benign and malignant tumors . Cases oAs an important peripheral immune organ, the spleen is rarely reported as the origin of HE tumors. To the best of our knowledge, few cases of HE have been reported to have arisen from the spleen in adults, and only one pediatric patient with splenic HE has been described . The cur9 per liter, normal range 4–10×109 per liter). Computed tomography (CT) scanning revealed two tumor masses in the lower lobe of the splenic parenchyma, with the larger one measuring 5.6 × 5.9 × 6.3 cm  due to 20-day intermittent abdominal pain. No abnormalities were observed during the physical examination with the exception of an enlarged spleen (degree II) . Laborat× 6.3 cm . The imaInitially a laparotomy was performed, and a rapid diagnosis of the carcinoma was conducted, which revealed borderline carcinoma with slight cellular heteromorphism. Due to this, a partial splenectomy was performed. Written informed consent was obtained from the patient’s parents. Following the surgery, a mass was cut from the lower spleen lobe. The excised section showed a well-circumscribed mass that was separate from the surrounding splenic parenchyma. Upon further observation, two tumor masses, growing in an exogenous pattern, were observed at the lower spleen pole, measuring 6.0 × 6.0 × 5.5 cm and 5.0 × 5.0 × 4.0 cm . PatholoThe diagnosis of splenic HE remains challenging as no specific clinical manifestations are evident in the early stages of development . With thTo the best of our knowledge, no studies have been published that summarize the treatment efficiency of splenic HE cases following the initial report . In the The therapeutic strategies for splenic HE have been limited as cases are rare. In adults, the most effective therapy is considered to be complete splenectomy –11. HoweTo our best knowledge, only one case of pediatric splenic HE had been reported prior to the current case report . The pat


Adrenal cortical tumors are rare in children. Secondary tumors associated with untreated congenital adrenal hyperplasia (CAH) have also been reported in pediatric population. It is difficult for pediatricians to differentiate these 2 lesions.CYP21A2 and CYP11B1 revealed a heterozygous mutation of CYP11B1 at c.1157C>T (A386V). No germline p53 gene mutation including R337H was detected.We described a 4.5-year-old girl who presented with symptoms and signs of virilization. Bone age was 9.5 years. Genetic analysis of The patient was first misdiagnosed as CAH and treated with hydrocortisone for 3 months. Diagnosis of an adrenal cortical tumor was confirmed by laboratory data and abdominal computed tomography. After resection of the tumor, serum steroids normalized and clinical signs receded. The child received no additional treatment and remains disease free after 12 months of close observation. Histological examination showed neoplasia cells with predominantly eosinophilic cytoplasm and few atypical mitotic figures. The proliferation-associated Ki-67 index was <1% detected by immunohistochemistry.Neoplasm is a rare but significant cause of precocious puberty (PP). The possibility of neoplasms should always be considered early to avoid delayed cancer diagnosis and treatment in cases of PP. The most frequent clinical presentation is virilization, alone or in combination with hypercortisolism.3 Congenital adrenal hyperplasia (CAH) may also present with peripheral precocious puberty (PP). And secondary tumors associated with untreated or inadequately treated CAH have been reported in both adult and pediatric population.5 Therefore, it is not easy for pediatricians to differentiate the above 2 conditions. Herein, we reported a 4.5-year-old girl with a virilizing adrenal cortical adenoma whose steroid studies and genetic analysis supporting the diagnosis of CAH, but after complete removal of the tumor, the hormonal abnormalities normalized and clinical signs receded.The mean prevalence of adrenal incidentalomas from the literature is 2.3%  at autopsy and 0.64%  at computed tomography (CT) scan.CYP21A2 and CYP11B1 by sequencing the polymerase chain reaction amplification products of exons revealed a heterozygous mutation of CYP11B1 at c.1157C>T . The girl's height was 114.5 cm (97th percentile) with a weight of 24.5 kg (>99th percentile). On physical examination  was <1% detected by immunohistochemistry  was observed using DNA sequencing. The postoperative course was uneventful. After surgery (1 month) the serum steroids normalized and clinical signs receded. There was no evidence of recurrence within a follow-up of 12 months.The diagnosis was reevaluated in September 2013. Abdominal CT scan showed an adrenal tumor on the left side with a size of 6.2 cm Figure . No tumoy Figure . The pro8 reported that the 2 most common conditions were premature adrenarche and premature thelarche. Assessment of PP is complex, and cancer is often underestimated. Primary organ lesions included brain tumor , ACT (adenoma or carcinoma), and hepatoblastoma, ovarian tumor .10 Another serious cause of PP in early childhood is late presentation of CAH (21-hydroxylase or 11β-hydroxylase deficiency). A small group of patients with ACTs might be misdiagnosed as CAH because the size of tumor was small in early stage and serum hormonal studies were misleading. It is crucial to differentiate whether the adrenal cortical tumor is primary or secondary to untreated CAH as a consequence of adrenocorticotropic hormone over-secretion. The latter always shows satisfactory regression after steroid therapy and needs no surgery. Therefore, it may be necessary to repeat abdominal imaging study when ACTs are suspected especially in developing countries where children often receive appropriate medical treatment late in the course of disease.The underlying cause of peripheral PP  in girls is usually benign or unclear. Kaplowitz11 The Ki-67 index can help differentiate adenomas from carcinomas. Although high frequency of p53 mutation  has been reported in southern Brazil,12 this is not the case in our study. Radical removal of the complete tumor by open or laparoscopic surgery is the mainstay of treatment. No adjuvant therapy was administrated due to the unavailability of mitotane in China. The overall prognosis of adrenal adenoma is excellent, in contrast to adrenal cortical carcinoma .14 There is always a delay between the onset of symptoms and accurate diagnosis in children with PP. So, the possibility of neoplasm should be considered early to avoid delayed cancer diagnosis and treatment.Unfortunately, histopathological distinction between benign and malignant lesions remains difficult. The Weiss scoring system might be of some value in predicting malignant behavior.In summary, we described an adrenal cortical adenoma mimicking CAH in a young girl. Neoplasm is a rare but significant cause of PP. ACTs might be misinterpreted as CAH. Although the girl in the present study seems to have been cured, long-term follow-up is warranted.


The technique of selective embolization has been applied for years in the treatment of vascular anomalies, severe hemorrhage, and for benign and malignant tumors. Some hypervascular skeletal metastases are prone to massive hemorrhage.We describe the cases of two patients with thyroid carcinoma presenting with neuromuscular symptoms due to large skeletal metastases in the shoulder and sternum respectively. Pre-operative percutaneous selective catheterizations of the arteries feeding the metastatic tumors were performed, followed by infusion of gelfoam. The procedures were technically successful in both patients without adverse effects or bleeding. Complete resections of the skeletal metastases were then performed without substantial bleeding.Selective embolization is an effective treatment for bony metastases from thyroid cancer. Well-differentiated thyroid carcinoma with bony metastases to the sternum or clavicle is uncommon. Patients with metastatic disease from thyroid carcinoma have a poor prognosis in general. However, adjuvant therapy may reduce the tumor burden in some patients, offering a survival or palliative benefit. Treatment modalities for patients with metastatic thyroid cancer include surgical excision, radioactive iodine (RAI) therapy with I-131, external beam radiotherapy, or novel therapies through recruitment into clinical trials. Large primary tumors and bony metastases are predictive of a poor response to RAI therapy. Complete surgical resection of isolated symptomatic metastases has been associated with improved survival and should be considered. For skeletal metastases in particular, surgery is recommended for symptomatic as well as asymptomatic lesions in weight-bearing extremities .Numerous studies have indicated that a large proportion of skeletal metastases from thyroid carcinoma are hypervascular, with bleeding consequently the most common complication encountered during surgery of these lesions. A few studies recommend embolization before resection of these bony metastases –4.Bone metastases from thyroid carcinoma to the sternum and clavicle are uncommon and have been reported only rarely. We present two cases of thyroid cancer with bony metastases to the sternum and clavicle, and describe management with pre-operative embolization followed by definitive surgery.A 71-year-old man presented to our center with a three-year history of a painful, progressively enlarging mass over his left clavicle and shoulder . The clavicular mass was fed by branches of the left subclavian artery. Additional selective micro-catheterization and embolization were performed on four feeding arteries  with gelfoam. There was no acute complication encountered during or following embolization.A total thyroidectomy with wide composite resection of the large clavicular mass was performed the following day. The metastatic lesion was easily separated from his left clavicle following complete tumor devascularization and necrosis by the pre-operative embolization. The estimated blood loss was low. Our patient received post-operative RAI (I-131) therapy. His post-operative recovery was uneventful, and he has been well and pain-free since surgery.A 64-year-old woman presented to our center with a painful hard mass over the upper part of her sternum. She had a history of a thyroid tumor 30 years ago but did not undergo surgery. The sternal mass was progressively enlarging and had been present for a month. On physical examination, a 4.0×3.7cm mass was found in her upper sternum extending to the region of the clavicular heads.Positron emission tomography-computed tomography revealed a 3.3cm tumor in her right thyroid gland and another 4.0cm upper sternal osteolytic mass Figure B. A diagCatheter angiography was performed prior to embolization to identify the feeding vessels supplying the metastatic lesion and to determine the feasibility and safety of embolization. These arteries were then catheterized, the choice of catheter depended upon the size of the feeding vessels. Infusion of absorbable gelatin sponge particles  was performed following selective catheterization of the feeding vessels. The sternal metastatic mass was fed by branches of the internal mammary arteries bilaterally. There was no immediate complication encountered during or after embolization.Our patient subsequently underwent a total thyroidectomy, with partial sternectomy for the metastatic lesion using a sternal saw. Sternal reconstruction was performed with bone cement and Malex mesh. The procedure was technically straightforward after the complete devascularization and necrosis of the sternal metastasis, which resulted in tumor ischemia and hypovascularity.Our patient received post-operative RAI (I-131) therapy. No evidence of cancer recurrence or distant metastasis was detected during subsequent follow-up visits.Distant metastasis occurs in 10% to 20% of well-differentiated thyroid carcinoma, most frequently to the lung and bone. RAI therapy is the gold-standard for treatment and remains a primary treatment modality for metastatic thyroid carcinoma, but poor tumor uptake of the agent can limit its usefulness. Results of ablation therapy are good with lung metastases, but bone metastases are not cured with ablation therapy alone. As such, osseous metastasis in differentiated thyroid carcinoma confers a significantly worse prognosis. Treatment options in patients with bone metastases from differentiated thyroid carcinoma are limited and mostly palliative. Other treatment modalities include surgery or external irradiation. Our report describes two cases of differentiated thyroid carcinoma with clavicular and sternal metastases that were managed successfully by surgery with pre-operative embolization. This demonstrated the effectiveness of embolization in the management of isolated skeletal metastasis from differentiated thyroid carcinoma , 5, 6.et al. identified surgical extirpation of bone metastases as a significant prognostic factor associated with improved survival in patients with distant metastases limited to the bones. This study concluded that in patients without additional extraskeletal distant metastases, radical surgical extirpation of bone metastases may be associated with improved survival [Surgery is indicated as first-line therapy in individual patients and should be advocated in cases of solitary bone metastasis. This therapeutic approach occasionally remains the only chance of offering a long-term cure with an improved quality of life and prolonged survival in cases where isolated metastases are amenable to resection. Furthermore, with multiple metastases or local recurrent disease, resection of skeletal metastases can allow for more efficient radio-iodine treatment, making surgical removal of resectable skeletal metastases a valuable complement to RAI therapy. Zettinig survival –3, 6, 7.Bleeding is the most common complication encountered at operation for these skeletal metastases. More than 60% of skeletal metastases, including those to the spine, demonstrate hypervascularity and neovascularity. Efforts have been made to decrease the incidence of intra-operative hemorrhage , 9.Embolization was first reported by Dr Frieda Feldman in 1975 as a useful adjunct in the management of selective bone tumors. Many studies have since reported on selective and super-selective intra-arterial embolization as an effective treatment with a rapid reduction in pain and tumor volume of primary bone and soft tissue tumors, including bony metastases from various primary malignancies. Embolization provides for devascularization, size reduction, calcification of margins, and pain relief; it can be palliative or adjunctive, as well as primary or serial , 6–9.The main purpose of embolization is to occlude as much of the tumor vascular supply as possible, yet avoiding damage to adjacent normal tissue. The outcomes range from complete tumor devascularization and necrosis to various degrees of ischemia and hypovascularity. This would ideally lead to tumor shrinkage, reduced intra-operative bleeding, and clearer delineation of margins between the tumor and surrounding tissues, thus allowing for easier resection. Decreased intra-operative bleeding is particularly important in patients with rare blood groups or in those prone to transfusion reactions. This is crucial considering that high transfusion requirements in tumor surgery are frequently complicated by depletion of clotting factors and coagulopathy that may further exacerbate intra-operative bleeding, while blood salvage techniques are contraindicated because of the risk of dissemination of tumor cells. In addition, in large and unresectable tumors, decreasing the volume of viable tumour tissue, destroying the tumor tissue, or at least inhibiting tumor growth will decrease the required doses of radiotherapy and chemotherapy , 6, 9.Therapeutic embolization of osseous metastases has been previously reported in a small number of patients with a variety of tumors. This procedure has also been shown to result in a rapid resolution of associated neurological symptoms. In our patients, it was believed that selective arterial embolization might be inadequate in controlling intra-operative bleeding, not only due to the size of the metastases but also because of resistance to pharmaceutical antiangiogenic manipulations. Thus, the treatment plan of these patients included surgery closely following embolization , 9, 10.Gelfoam or gelatin sponge is a dissolvable sponge-like material that has been used for many years in surgery. It comes in small, flat, rectangular blocks that can be either cut with scissors into elongated rectangles or rolled into pledgets and injected via diagnostic catheters or microcatheters. Alternatively, the material can be cut into small cubes and mixed vigorously in a syringe to form a slurry (two syringes connected via a stopcock works well). Gelfoam is considered a temporary occluding agent, with the occluded vessel re-canalizing in two to four weeks, although the evidence for the exact timeframe is limited , 9, 11.In view of the insensitivity of bone metastasis to RAI therapy, the authors believe that pre-operative embolization followed by definitive surgery of solitary osseous metastasis from thyroid carcinoma is a safe and effective treatment option, even in technically demanding anatomical locations.Written informed consent was obtained from the patients for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.


Natalizumab (NTM) represents an effective drug for the treatment of relapsing-remitting multiple sclerosis (RRMS). Progressive multifocal leucoencephalopathy (PML) is a potential life-threatening complication of NTM treatment. A close follow-up and MRI monitoring of patients under NTM are required to avoid such devastating complications. The case of a 47-year-old woman with RRMS (EDSS 1.5) treated with NTM for 44 months is reported. The patient had a relapse with mild cerebellar symptomatology and visual complaints. MRI revealed a new area of abnormal signal intensity in the subcortical white matter of the right parietal lobe with mild peripheral enhancement. Visual fields showed scotomata mostly of the left eye. NTM was discontinued. JC virus (JCV) polymerase chain reaction (PCR) in cerebrospinal fluid was negative. The patient received IV corticosteroids for 5 days and then monthly for 2 months with subsequent clinical and MRI improvement. On month 4, she presented with a new relapse with severe ataxia, mild behavioral change, increase of cerebellar symptoms and internuclear opthalmoplegia (EDSS 3.5). MRI showed reappearance of the right parietal lobe lesion, with decreased size and less pronounced contrast enhancement. A new 2-cm lesion was noted in the left cerebellar hemisphere with a speckled pattern of contrast enhancement. JCV PCR was negative and the patient was treated with IV corticosteroids. On month 12, she demonstrated clinical and MRI improvement. Although initially PML was highly suspected in this patient, the clinical and MRI findings were supportive of the presence of immune reconstitution inflammatory syndrome (IRIS). Natalizumab (NTM), a monoclonal antibody against a4 integrin, represents a second-line therapy for relapsing-remitting multiple sclerosis (RRMS), significantly reducing clinical relapses and disease progression .Progressive multifocal leucoencephalopathy (PML) is an opportunistic brain infection caused by reactivation of latent JC virus (JCV) infection of oligodendrocytes and subsequent demyelination of the central nervous system (CNS) . AlthougIn the presence of new neurological symptoms in NTM-treated patients, PML needs to be excluded. However, the distinction between MS relapse, PML and immune reconstitution inflammatory syndrome (IRIS) may not be clear at symptoms onset. Clinical history and neurological examination as well as MRI scans and cerebrospinal fluid (CSF) analysis lead to the diagnosis of PML in most cases . Early dA 47-year-old woman with an 11-year history of RRMS was under NTM treatment for 44 months.The patient was initially treated with interferon for 3 years and switched to NTM treatment due to two significant clinical relapses. It is of note that one of her relapses consisted of Wernicke’s aphasia and cerebellar symptomatology and responded well to corticosteroid treatment. During NTM treatment, she remained relapse free (EDSS 1.5) and underwent regular MRI monitoring every 6 months showing no new lesions.After NTM treatment for 44 months, she presented with a relapse with mild cerebellar symptomatology and visual complaints. She was found positive for JCV antibodies in serum while antibodies against NTM were negative. MRI showed a new area of abnormal signal intensity in the subcortical white matter of the right parietal lobe with mild peripheral enhancement . Visual On month 4, she presented with a new relapse with severe ataxia, mild behavioral change, increase of cerebellar symptoms and internuclear opthalmoplegia (EDSS 3.5). MRI showed reappearance of the right parietal lobe lesion, albeit with decreased size and less pronounced contrast enhancement. Additionally a new 2-cm lesion was found in the left cerebellar hemisphere. In post-contrast images, the cerebellar lesion showed enhancement with a speckled pattern, consisting of multiple coalescing punctate foci . In addiWe present a patient with RRMS under NTM treatment for 44 months who presented with a relapse and MRI findings suspicious of PML were finally diagnosed as a non-PML-IRIS.IRIS is defined as paradoxical worsening of the neurological condition during immune recovery in a patient with CNS infection such as HIV . Lately,The present case underlines the difficulty to differentiate PML from IRIS at the onset of neurological symptoms. Although there was only a mild change in patient’s neurological status, MRI scan was suspicious for PML. The repeated PCR for JCV at different time intervals as well as the clinical improvement of the patient’s clinical status excludes the diagnosis of PML with low JCV DNA copies .However, clinical vigilance of patients under prolonged NTM is necessary to access any change in neurological status since in the presymptomatic phase of PML, the presentation may be atypical . A folloMetz et al studied the histopathological and MRI findings of IRIS in a series of five MS patients with NTM associated PML after cessation of therapy. They reported that one of the enhancement patterns compatible with IRIS is the linear and speckled enhancement of the gray-white matter junction or within the gray matter . A similOn the other hand, contrast enhancement in MRI was reported in 12 of 28 43%) of patients with PML, suggesting that contrast-enhancing lesions cannot favor MS exacerbation and exclude PML without further investigation [% of patiIRIS has been described in association with PML in MS patients under NTM treatment . Two difThe present case shows that IRIS may present in the absence of PML and underlines the necessity of careful clinical and MRI monitoring of NTM-treated patients to diagnose a relapse from PML. In spite the increased risk of developing a dramatic clinical and radiological worsening after NTM discontinuation, our patient showed a good outcome after regular corticosteroid treatment for 10 months.


We herein report a case of spontaneous rectal expulsion of an ileal lipoma in a 65-year-old female patient who presented with recurrent attacks of subacute intestinal obstruction. During each episode, the patient developed severe abdominal pain and expelled a fleshy mass from her rectum. The fleshy mass was histopathologically diagnosed as a lipoma comprising fat cells, fibers, and blood vessels. Upon expulsion, the pain disappeared and the intussusception was immediately resolved. Colonoscopic examination revealed a 2.5-cm diameter ulcerated lesion near the ileocecal valve, which was confirmed to be inflammation by pathological examination. A subsequent barium series revealed a normal colonic tract, and the patient remained completely symptom-free for 4 months after the incident. According to the relevant literature and our clinical experience, the treatment method for a lipoma depends on the patient’s clinical manifestations and the size of the tumor. However, the various diagnostic and therapeutic modalities currently available continue to be debated; whether an asymptomatic lipoma requires treatment is controversial. When histopathological examination results allow for the exclusion of malignant lesions such as sarcoma, a lipoma can be resected surgically. Small intestinal tumors are extremely rare, accounting for only 1% to 2% of gastrointestinal tumors worldwide ) OR lipoma) AND  OR small intestine OR small bowel) AND (English [Language]) AND (intussusception [MeSH Terms]). Only 51 eligible articles were retrieved. We excluded articles that described secondary cases or the imaging characteristics of lipomas in the small intestine and only 27 articles remained  (Table 1According to the literature, most lipomas are asymptomatic. They may present as intestinal obstruction or hemorrhage . The lacDefinitive surgical resection remains the recommended treatment for adult intussusceptions due to the large proportion of structural causes and the relatively high incidence of malignancy. However, the most optimal surgical management technique remains controversial. Some investigators have stated that small bowel intussusceptions should be reduced only in patients in whom a definitive benign diagnosis has been made preoperatively and should be avoided in patients in whom resection may result in short-bowel syndrome . All surIn summary, the treatment of intestinal lipoma depends on the clinical manifestations and the size of the tumor. Whether small asymptomatic lipomas need further treatment remains controversial. For symptomatic lipomas, operative resection can be performed to histopathologically exclude liposarcoma and malignant lesions. Laparoscopic operative resection is superior to the traditional open operation. In the presence of complications such as acute intestinal obstruction, intussusception, or massive hemorrhage, operative treatment is recommended. In patients with intestinal ischemia, necrosis, or suspected malignancy, intestinal resection and anastomosis is feasible. Otherwise, reduction is appropriate and prevents the development of short-bowel syndrome.In this paper, we have described a case involving a lipoma in the terminal ileum. Ultrasonographic and whole-abdomen CT examination showed that the lipoma had caused an ileocolic intussusception and incomplete intestinal obstruction. After the onset of the ileocecal intussusception, the site slowly expanded toward the ascending colon, transverse colon, and splenic flexure of the colon. The lipoma finally fell to the rectum, and intussusception resolved spontaneously.Written informed consent was obtained from the patient for publication of this case and for the accompanying images.CECT: Contrast-enhanced computed tomography; CT: Computed tomography; DBE: Double-balloon endoscopy; ERCP: Endoscopic retrograde cholangiopancreatography; EUS: Endoscopic ultrasonography; MDCT: Multidetector row computed tomography; MRI: Magnetic resonance imaging; US: Ultrasonography.All authors have made substantive contributions to the study, and are in agreement with the conclusions of the study. Furthermore, there are no financial competing interests.BK and QZ searched the database, selected the articles, and wrote the manuscript. FM supervised the writing of the manuscript. QN, LH, and WC managed the figures. DS supervised the methodology, the selection of the articles, and the writing of the manuscript and is the corresponding author of the paper. All authors have read and approved the final manuscript.http://www.textcheck.com/certificate/p5Hkrp.The English in this document has been checked by at least two professional editors, both native speakers of English. For a certificate, please see:


A 54-year-old man with an extensive history of burns to more than 60% of his body, some years ago, complained of a sharp, unremitting pain in the ulnar distribution of the left hand. Physical examination revealed a previously amputated left small finger with exquisite point tenderness and a small, 0.5-cm mass over its distal tip .What is the diagnosis?What is the differential diagnosis?What is the pathophysiology behind its development?What are the available treatment options?This patient has an amputation stump neuroma that formed at the end of a severed nerve. In this position, it was subject to repeated trauma leading to increased size, edema, fibrosis, and sensitivity. The pain was sufficient to limit the use of the entire hand. The diagnosis was easily made as tapping over the swelling elicited painful paresthesia radiating along the ulnar digital branch of the small finger .The differential diagnosis includes traumatic neuroma, ganglion cyst, phantom pain syndrome, and chronic pain syndrome.1-3After sharp trauma to an amputated peripheral nerve, fascicular escape and regenerating axons, lacking a protective endoneurial tube, grow into the surrounding scar. The result is a disorganized bulbous tumor that is often quite painful and tender with contact.1Treatment of neuromas, especially those within the hand, is important due to their debilitating and painful symptoms, often altering patient productivity and activities of daily living.


Gallbladder tuberculosis (GT) is extremely rare, and it is difficult to differentiate from other gallbladder diseases, such as gallbladder carcinoma and Xanthogranulomatous Cholecystitis. A correct preoperative diagnosis of GT is difficult. The final diagnosis is usually made postoperatively according to surgical biopsy. Here, we report a case of a patient who underwent surgery with the preoperative diagnosis of gallbladder carcinoma. We reviewed the literature and present the process of differential diagnosis between two or more conditions that share similar signs or symptoms. Gallbladder tuberculosis (GT) is an extremely rare disease entity. Gallbladder is mostly infected with hematogenous tuberculosis or other intra-abdominal tuberculoses , 2. A coA 68-year-old male patient was admitted to our hospital with chief complaints of recurrent pain in right hypochondrium, loss of appetite, and dyspepsia for the past 1 month. No fever, weight loss, or night sweating was reported. The patient denied any history of tuberculosis or hepatitis. There was no history of jaundice. The general and abdominal examinations revealed nothing significant. Laboratory investigations were normal. No abnormality was found at chest X-ray. At abdominal ultrasound, a gallbladder mass was observed, and the gallbladder was distended with multiple gallstones with associated cholecystitis. Preoperative ESR was 30 mm/h. Contrast-enhanced CT scan revealed a 5 mm thick gallbladder wall, and the interface between liver and gallbladder was not obvious, possibly indicating that gallbladder lesions had infiltrated into the liver parenchyma . TherefoThe gallbladder was resected and sent for intraoperative frozen-section examination, and report indicated that no sign of malignancy was found. The definitive histopathological examination (HPE) of gallbladder reported gallbladder tuberculosis . MicroscThe patient has been gradually relieved of all symptoms since cholecystectomy and was well at 6-month follow-up.Gallbladder tuberculosis (GT), especially the isolated GT, is an exceedingly rare disease entity . GT ofteAlthough patients infected with GT may present with a series of symptoms such as abdominal pain, jaundice, weight loss, vomiting, and abdominal mass, pain in right hypochondrium and abdominal mass may be main clinical manifestations. Around 70% of GT cases are accompanied by gallstones [A correct preoperative diagnosis of GT is difficult. Therefore, differential diagnosis from other gallbladder diseases is important. For patients who have been infected with GT, an increased ESR and anemia, along with positive Mantoux tuberculin skin test, would be detected in laboratory tests. For gallbladder carcinoma (GC), the most common symptoms are pain (76%), weight loss 39%), jaundice 38%), and anorexia (32%) [%, and an%, jaundiIn aspect of radiology, CT scan or magnetic resonance imaging (MRI) is necessary for differential diagnosis. Among GC patients, intraluminal polypoid mass or invasion to adjacent organ and vessel can be easily used to differentiate from gallbladder tuberculosis and XGC , 14. BesXu et al. revealed that there are three types of CT morphology features for GT diagnosis . The micIn conclusion, CT manifestation, combined with clinical symptoms, might be an available approach to diagnose GT. The final diagnosis of GT relies on the histopathological examination of resected specimen.


Swyer syndrome is a rare manifestation of disorders of sex development in which the individual is 46, XY in genotype but phenotypically a female. They have normal female external genitalia with under developed female internal genitalia. They usually present with primary amenorrhoea and delayed puberty but also can present with gonadal tumors in adult life.A 25-year-old Sri Lankan phenotypically female having 46 XY karyotype with a history of primary amenorrhoea, presented with left loin pain associated with fever. General examination revealed a tall stature, scanty axillary and pubic hair, small breasts and clitoromegally. A tender ill-defined mass was detected in the left hypochondrial region. She had high erythrocyte sedimentation rate with elevated alkaline phosphatase and lactate dehydrogenase levels. Her serum hormonal assay revealed a low estradiol level with elevated luteinizing hormone and follicular stimulating hormone levels with normal progesterone and testosterone levels. Computerized tomography of abdomen showed a large complex mass lesion in relation to antero-medial aspect of the lower pole of the left kidney with para-aortic and left common iliac lymph nodes. The diagnostic laparoscopy confirmed the presence of internal female genitalia and the mass lesion was seen in left para-aortic region. The histology revealed a germ cell tumor compatible with a dysgerminoma.Patients with Swyer syndrome can present with gonadal tumors, typically a dysgerminoma in their adult life. Swyer syndrome or 46, XY complete gonadal dysgenesis  is a disorder of sex development (DSD) in which the individual is 46, XY in genotype but phenotypically a female. They have unambiguous female external genitalia and normal Müllerian structures. Mutations in the genes SRY, DAX1, WNT4, SOX9, SF1, WT1 and WMRT1—WMRT2 in chromosome Y have been considered responsible for the development of 46, XY CGD. Patients with Swyer syndrome show hypergonadotrophic hypogonadism with low levels of estrogens and normal female levels of androgens and they usually present with primary amenorrhoea and delayed puberty. The syndrome may also present in late adulthood with gonadal tumors, typically a dysgerminoma. We report a case of a 23-year-old phenotypic female with 46, XY genotype and female internal genitalia, ambiguous external genitalia  presenting with a germ cell tumor in an unusual site, considered as a dysgerminoma in a case of Swyer’s syndrome.A 25-year-old Sri Lankan phenotypically female presented to the general medical unit with the complaint of gradual onset left loin pain associated with fever for 5 days. It was a moderate to severe dull ache which did not radiate to groin. The fever was intermittent and associated with chills but not with rigors. She did not experience urinary symptoms like dysuria, increased urinary frequency or hematuria. She has had few episodes of vomiting associated with the abdominal pain but her bowel opening was normal. She’s an unmarried, nulliparous female and further inquiry revealed that she had been investigated for primary amenorrhoea at the age of 14 years. She was found to have rudimentary uterus with intact ovaries ultrasonically and was initially started on combined oral contraceptive pills. With the medication she started normal menstruation but the treatment was not regularly taken due to the appearance of acne and weight gain. At the age of 23 years she was referred to an Endocrinologist and found to have 46, XY genotype by chromosomal analysis. She was given estradiol valerate titrating doses by the physician but treatment was defaulted by the patient due to fear of cancer risk.2). She had small breasts, scanty axillary hair and scanty female pattern pubic hair. Her external genitalia were female in type but clitoromegally was observed. She was febrile but not pale or icteric. Cervical lymphadenopathy was not detected. A tender mass with smooth surface was palpated over left hypochondrium which was not ballotable and the upper margin was not detected by palpation or by percussion. There was no hepatomegaly. Her cardiovascular, respiratory neurological and loco-motor system examinations were unremarkable.On examination she was 66 kg in weight and 170.2 cm in height , hemoglobin of 11.5 g/dl and a platelet count of 243 × 109/ml. Erythrocyte sedimentation rate was 127 mm in 1st hour. Liver profile revealed alkaline phosphatase (ALP) level of 2986 U/L with slightly elevated transaminase levels . Renal and coagulation profiles were normal. Serum lactate dehydrogenase (LDH) level was 395 U/L. Serum tumor markers including alpha-feto protein (AFP) levels, serum beta- human chorionic gonadotropin (hCG) and CA 125 levels were within normal range. The chest and lumbo-sacral spine roentgenograms were reported as normal. Ultrasound scan of abdomen and pelvis revealed a well-defined mass lesion in relation to the lower pole of the left kidney. Small uterus was visualized but ovaries could not be identified separately. The liver was normal in size and there were no focal lesions. Contrast enhanced computerized tomography of abdomen and pelvis revealed large complex mass lesion (11.0 × 9.7 × 8.3 cm) in relation to antero-medial aspect of the lower pole of the left kidney  in the background of elevated luteinizing hormone level of 40.64 μIU/ml (2–15 μIU/ml in follicular phase) and follicular stimulating hormone level of 73.09 μIU/ml (3–20 μIU/ml in follicular phase). The progesterone level of 0.35 ng/ml (0.33–1.2 ng/ml in follicular phase) and testosterone level of 0.25 ng/ml (0–0.73 ng/ml) were within normal range. She was found to have normal thyroid stimulating hormone level of 2.55 μIU/ml (0.4–5.1 μIU/ml) and serum prolactin level of 18.5 ng/ml (3.9–29.5 ng/ml).Diagnostic laparoscopy revealed a small uterus with bilateral normal sized ovaries with fallopian tubes. The mass lesion revealed by imaginary studies was confirmed as a para-aortic mass but which was not attached to the lower pole of the left kidney. The left gonadal vein was seen crossing over the mass. Excision of the left para-aortic mass with attached lymph nodes was done via a subcostal incision which extended up to the xyphisternum. Pathological sectioning of the mass macroscopically showed a soft degenerating tumor with a uniform red-brown appearance Fig. a. A unifThe differential diagnosis of Swyer syndrome , 46, XY disorder of sex development  and partial androgen insensitivity syndrome were made. Androgen insensitivity syndrome was easily excluded since the presence of female internal genital organs. Even though the presence of clitoromegally is against the diagnosis of Swyer syndrome, 46, XY DSD could be fairly excluded due to the absence of testicular elements via direct visualization of the abdominal cavity and by histology. The treating oncologist decided to preserve the ovaries and the patient was given full course of chemotherapy.Swyer syndrome or 46, XY CGD is a disorder of sex development (DSD) in which the individual is 46, XY in genotype but phenotypically a female with unambiguous female external genitalia and normal Müllerian structures. These patients’ mesonephric ducts (Wolffian ducts) get atrophied while paramesonephric ducts (Müllerian ducts) develop into uterus, fallopian tubes and vagina in the absence of testosterone and anti-Müllerian hormone. However, such female patients, in the absence of XX chromosome do not have a properly developed uterus and ovaries.Mutations in the SRY gene in chromosome Y have been implicated as the basic etiology, but duplication of DAX1  and WNT4 genes as well as haplo-insufficiency of the SOX9, SF1, WT1 and WMRT1—WMRT2 genes are also have been considered responsible for the development of 46, XY CGD . The incPatients with Swyer syndrome show hypergonadortrophic hypogonadism with low levels of estrogens and normal female levels of androgens. Their minimal breast development is a result of peripheral aromatization of androgens. They have scanty pubic and axillary hair and are taller than the ordinary females. Their gonads (ovaries) display fibrous tissue but no follicles .They usually present with primary amenorrhoea and delayed puberty. The syndrome may also present in late adulthood with gonadal tumors, typically a dysgerminoma. Other tumors with which they can manifest are gonadoblastoma, teratoma and embryonic carcinoma. The lifetime risk of gonadal tumors is in range of 15–35 % [Since the Müllerian structures are preserved in Swyer syndrome the uterus may increase in size when estrogen replacement is started and successful pregnancies have been achieved following egg donation.46, XY partial gonadal dysgenesis, which is now called as 46, XY disorder of sex development  is also a DSD associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from clitoromegally in female phenotype to absolute male phenotype in a patient with 46, XY karyotype. It is associated with abnormality of both Leidig and Sertoli cell function that may result from deletions or point mutations in the SRY gene or dose sensitive (RROB1) locus duplication on the X chromosome [Ovarian germ cell tumors are derived from primordial germ cell tumors of the ovary and can be benign or malignant. Dysgerminomas are the female version of the male seminoma and are essentially composed of immature germ cells. They can occur at any age but have a predilection for young women. Grossly, dysgerminoma appears as a lobulated mass that is firm and cream colored or pale tan. Histologically, the neoplasm is composed of undifferentiated germ cells, large vesicular cells with clear cytoplasms, well defined cell boundaries and centrally placed regular nuclei. The overall picture is also described as “fried-eggs” appearance. The stroma is infiltrated by clusters of small lymphocytes and frequently contains granulomas. Due to the rapid growth of dysgerminoma, patients usually present with abdominal enlargement and pain due to rupture with hemoperitoneum or torsion. Dysgerminomas can contain syncytiotrophoblastic giant cells those produce placental ALP and LDH. In addition, 3–5 % of dysgerminomas produce hCG, but in general, they do not produce AFP . SurgeryDysgerminomas may develop within a gonadoblastoma (a benign or in situ germ cell ovarian neoplasm composed of germ cells and sex cord stroma) in phenotypic females who have a Y chromosome. This group includes patients with 46, XY complete gonadal dysgenesis, 46, XY disorder of sex development and complete androgen insensitivity.We report a possible case of Swyer syndrome with ambiguous genitalia, who was diagnosed as having 46 XY genotype at the age of 23 years and lost to follow up for the next 2 years presenting with advanced (stage IIIC) germ cell tumor emphasizing the need of close monitoring of these type of patients by a multidisciplinary team. The clinical picture fits to the 46, XY CGD, but opens this presentation to a new entity in the classification of disorders of sex development, since linked with ambiguous genitalia and should be further evaluated.Written informed consent was obtained from the patient for publication of this case report and any accompanying images.