Fibrous dysplasia is tumor like lesions of bone which develop as substitution of bone by an expansion of fibrous connective tissue mixed with hard trabeculae. Chondrosarcomas is one of common malignant primary bone tumor derived from heterogenous group of neoplasm producing chondroid matrix. Chondrosarcoma arising in fibrous dysplasia, especially in monostotic fibrous dysplasia is a very rare case.A 54-year-old male presented with chief complaint of pain on left thigh. Patient with history of pathological fracture on left femoral diaphysis 3 years ago due to fibrous dysplasia and had underwent curettage, open reduction, and internal fixation at other hospital. Plain radiography revealed expansive lytic lesion, interrupted periosteal reaction with plate and screw attached to the lesion, and soft tissue mass. MRI T2FS sequence showed hyperintense mass extending from subtrochanteric to distal of left femoral diaphysis. Histopathological result from biopsy suggested chondrosarcoma.Malignant transformation of monostotic type was less frequently compared to polyostotic type. Among all malignant transformation cases, alteration to chondrosarcoma was more scarce than other malignancy such as osteosarcoma and fibrosarcoma. Wide surgical margin and reconstruction in chondrosarcoma provide good local control and functional outcome. •Chondrosarcoma arising in monostotic fibrous dysplasia is very rare.•Wide surgical margin provides good local control, thus become the mainstay treatment of chondrosarcoma.•Limb salvage surgery in chondrosarcoma provides good functional outcome. This disease has a lot of clinical symptoms variants due to varying degrees of mosaicism. It can be asymptomatic to severely disabling symptoms. It may occur in alone, or as a syndrome with extra skeletal disease manifestations 2A 54-year-old man was referred to our institution, he complained pain on his left thigh for 2 years. The pain was felt in the midthigh region. There were no other symptoms from the anamnesis. Patient previously had pathological fracture 3 years ago on the left femoral shaft. It occurs after the patient was slipped on the bathroom and fell. The patient had undergone curettage, open reduction and internal fixation at district general hospital. Histopathological examination after first surgery suggested fibrous dysplasia. On physical examination, the lump was palpable on his postero-medial thigh. The lumps were firm and non-tender on palpation, fixated, and the size was around 14 × 8 × 11 cm .Fig. 1ClThe patient underwent diagnostical procedures, including a blood test, plain radiograph, and Magnetic Resonance Imaging (MRI). Laboratory findings were within normal ranges. The patient underwent total femur resection with wide surgical margin. He was placed on supine position. The surgical incision started 4 cm proximal to the greater trochanter, it is brought curved distally to the medial thigh until anteromedial aspect of tibial tuberosity. Superficial femoral artery and vein were identified. Rectus femoris and some parts of vastus lateral muscle were preserved. The tumor was removed with wide surgical margin . ReconstThe surgery took 7 h. The amount of bleeding during total femur resection was 1300 cc. There was no complication during or after surgery. We mobilized the patient with non-weight bearing and after one month of surgery we change it to partial weight bearing as tolerated. The length of stay in the hospital was 7 days.The histopathology examination from the resected tumor showed cartilage matrix and hypercellular chondrocyte. The chondrocytes were varied in shape, atypical, larger in size, and hyperchromatic nuclei. There were large number of binucleation with mitosis, and same myxoid changes. The conclusion from the histopathology examination was chondrosarcoma grade II .Fig. 5HiAt the 12 months follow up, the patient was in good condition. Patient had Trendelenburg gait and weak extensor knee muscles. Patient needed one crutch for walking. MSTS score evaluated functional outcomes, where the patient scored 16 or 53%. The patient did not complain of any pain. The patient also showed no sign of recurrence 12 months after the surgical procedure.At follow up, the patient was in good condition and could work normally.3Fibrous dysplasia results from the change from normal bone to abnormal with also obliteration of the bone marrow. The tissue in FD is rich in fibroblast-like cells. The uncontrolled GαS-mediated signaling disturbs the differentiation process of osteogenic progenitors into mature osteoblasts and osteocytes Fibrous dysplasia divided in two types, monostotic and polyostotic fibrous dysplasia. The most common, the monostotic type, affects one bone and accounts for around 70 to 85% of all cases. Moreover, the monostotic type develops later in life, usually young adults (20–30 years old), and mainly affects the ribs or the femur. Most monostotic lesions are asymptomatic and are detected incidentally in radiographic imaging. The polyostotic type, in comparison, appears earlier, typically in children younger than 10 years. The predilection of polyostotic type more often affects maxillary and other craniofacial bones, ribs, femur or tibia. Cafe-au-lait spots and hyper functional endocrine characteristic of McCune-Albright syndrome are found in 3% of polyostotic disorder, and more common in females ten times than males The clinical characteristics of fibrous dysplasia included pain, swelling, and lump. Plain radiograph of this lesion can show ground-glass lesions and osteolytic lesions and the margin can be found complete and incomplete sclerotic, mild or moderate degree of mineralization, cortical thinning or destruction, periosteal reaction and soft tissue mass. CT images were evaluated for determining location of the lesion, any related abnormality of the medullary canal, mineralization, cortical degradation, periosteal and soft tissue mass reactions. MRI abnormality was tested for any related medullary channel anomalies soft tissue edema, soft tissue mass, and contrast improvement trends Malignant degeneration can occur in fibrous dysplasia, and several cases have been published. In a study of 89 literature cases, histologic forms of malignant tumors found include osteosarcoma, fibrosarcoma and chondrosarcoma, the most common form being osteosarcoma which accounts for 60.7% of the cases Malignant transformation of fibrous dysplasia to chondrosarcoma is very rare. Prevalence of these cases was 10% of all cases Qu et al. stated that patients with FD and had a history of surgery should be followed up. Symptoms like cutaneous pigmentation, endocrine disturbances, and history of precocious puberty as in Mc-cune Albright syndrome or Mazabraud syndrome should be taken into consideration because this type of medical condition increasing rate for FD turned malignancy.Radio imaging in this type of case, many literatures stated that poorly marginated, mineralized, osteolytic and cortical destruction imaging are considered as malignancy. As for the MRI showed extra osseous extent of the tumor enhanced by contrast injection In this case report, 54-year-old patient still felt pain on the left femur region after first surgery. Plain radiography revealed expansive lytic lesion, interrupted periosteal reaction with plate and screw attached to the lesion, and soft tissue mass. MRI T2FS sequence showed hyperintense mass extending from subtrochanteric to distal of left femoral diaphysis. Open biopsy revealed histopathology of the tumor was monostotic fibrous dysplasia. Three years after surgery, the patient underwent limb salvage surgery by wide excision and reconstruction using megaprosthesis. Histopathological examination from the lesion revealed grade II chondrosarcoma. The monostotic lesion underwent malignant transformation into chondrosarcoma in two years.Treatment of this patient limb salvage surgery by wide excision and reconstruction using total femur megaprosthesis. Total femur resection was performed for diaphyseal lesions that extend proximally to the lesser trochanter and distally to the distal diaphyseal-metaphyseal junction and cause extensive bone destruction There was a similar case of fibrous dysplasia transformation to chondrosarcoma in pelvis region in a 10-year-old boy. This case was reported by Halawa et al. The lesion was obtained from biopsy after Kuntcher nailing and confirmed the diagnosis of fibrous dysplasia. After 23 years old, a pelvic mass appeared occupying iliac fossa and gluteal region. The mass was suspected chondrosarcoma, and the patient underwent hemipelvectomy. The diagnosis was established from histopathological examination as chondrosarcoma There was no sign of recurrence after 12 months of follow up. The study conducted by Halawa stated that 11 patients of chondrosarcoma in their study had such resections involving different parts of innominate bone and none of them had local recurrence or metastasis after follow-up for three to six years The MSTS score in this patient was 16 or 53%. Takuya et al. study reported that the MSTS was 59% in patients with total femur resection after 52 months follow up, which mean the result in this patient was better. The Complication rate after total femur resection is high, included infection and deep vein thrombosis. In other study reported infected complication is 11% and 20% for deep vein thrombosis 4Malignant transformation of monostotic type was less frequently compared to polyostotic type. Among all malignant transformation cases, alteration to chondrosarcoma was more scarce than other malignancy such as osteosarcoma and fibrosarcoma. Total femur resection is performed for diaphyseal lesions that extend proximally to the lesser trochanter and distally to the distal diaphyseal-metaphyseal junction and cause extensive bone destruction. Control of the tumor and survival of patients are the primary aims of total femur resections. The complication rate after total femur resection is high.This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.Ethical approval was not required in the treatment of the patient in this report.Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.Muhammad Wahyudi contributes in the study concept or design, data collection, analysis and interpretation, oversight and leadership responsibility for the research activity planning and execution, including mentorship external to the core team.Ziad Alaztha contributes to the study concept or design, data collection and writing the paper.Does not need any registration.Muhammad Wahyudi, MD.Not commissioned, externally peer-reviewed.No patient or author details are included in the figures.The authors declare no conflicts of interest.


Wilms' tumor, nephroblastoma, is an extremely uncommon kidney tumor of adulthood. We reported a woman with a huge kidney mass diagnosed with nephroblastoma.A 39-year-old female was assessed due to right flank pain. CT scan revealed a mass measuring 128×100 mms involving the upper portion of the right kidney. The patient underwent nephrectomy, and the diagnosis of adult Wilms' tumor was confirmed based on the morphological and immunohistochemical findings. In adult patients with flank pain and renal mass, the diagnosis of Wilms' tumor should be pronounced in the absence of histopathologic features of renal cell carcinoma. Wilms' tumor (nephroblastoma) is the most common pediatric renal tumor. However, it has rarely been reported during adulthood . Solid rA 39-year-old female was referred to the Department of Urology of Emam Reza Hospital, Mashhad, Iran due to persistent pain in the right flank. During the history, she had hypothyroidism which was controlled by levothyroxine. The pain had started three months ago and its intensity did not change during the day. A slight tenderness and palpable mass in the right lumbar region were detected on the physical examination without any other unremarkable findings. Routine tests were performed for the patient showing a mild microcytic hypochromic anemia, normal kidney function tests and elevated level of serum lactate dehydrogenase (753 U/L). Urine tests revealed significant red blood cell count per HPF. In an ultrasound examination, a solid mass with the size of 124×145 mm was observed in the cortex of the right upper kidney pole. Other abdominal and pelvic organs were reported normal. In abdominal and pelvic computed tomography (CT) scan with and without contrast, solid and hypodense mass involving the upper half right kidney was detected with approximately 128×100 mm in diameter (figure1). Also, paraaortic lymphadenopathy on the right side of the abdominal aorta was seen adjacent to the tumor, the largest was 22×11 mm in diameter. The kidney mass did not invade to surrounding structures and instead displaced liver and abdominal organs by pushing them. Other abdominal and pelvic organs were reported normal. Pulmonary and mediastinal spiral CT without contrast were performed for the patient, there was no evidence of any pulmonary or pleural metastasis. With a primary diagnosis of RCC, right radical nephrectomy was performed along with the removal of palpable pathologic lymph-nodes. Macroscopic examination shows kidney with surrounding fat weighing 1625 grams, measuring 18*13*8 cm. It has a mass with lobular outer surface and size of 16.5 * 11.5 * 7.5cm. The cut surface is creamy to white with areas of necrosis and hemorrhage surrounded by kidney with the size of 4 *3 *2 cm. The surgical margin was involved with the tumor but ureteral pelvis and sinus fat were not. In the light microscopic examination, the tumor was composed of tubular and rosette-like structures covered by simple to pseudo-stratified columnar epithelium with elongated, vesicular nuclei with acidophilic cytoplasm, occasionally with intraluminal papillary projection, enclosed in fascicular mesenchymal stroma, fibrous and hyalinized areas . Foci ofImmunohistochemistry for EMA, CK, CD56, WT1, CD10, CD99, synaptophysin, chromogranin was done. WT1 (with twice repeat) was non-specific , EMA wasAfter definitive diagnosis, patients received 6 cycles of vincristine, dactinomycin, and doxorubicin. After a two-year follow-up, the patient was disease-free. Wilms' tumor is a childhood neoplasm that most of them are under the age of 6 . Renal cIn an Indian literature, most of the adult patients with adult Wilms' reported had a dominant blastemal component , 11. TheMost Wilms' tumor patients complain of flank pain, hematuria and many report a history of weight loss and sudden loss of consciousness. While in children, it showed more a palpable mass . It is aThere has even been a report of Wilms' tumor outside the kidney . This tuAdult nephroblastoma is usually diagnosed in advanced stages with large renal mass and extensive regional lymphadenopathy . BecauseIn addition to histological findings, genetic and molecular studies may be necessary to gain further insight into the biology of individual tumors and may improve outcomes of aggressive treatment , 22-24.


Perivascular epithelioid cell neoplasm (PEComa) in a child is very rare. We herein report the first malignant case of PEComa developing in the liver of a pediatric patient.18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) showed a marked uptake in the mass lesion with no evidence of metastasis. The patient was negative for all tumor markers, including AFP, CEA and PIVKA-II. The results of a needle biopsy suggested hepatocellular carcinoma. The tumor’s rapid growth suggested malignancy. Hepatic segmentectomy (S4 + S5 + S8) was performed. The tumor was resected en bloc with a margin. Microscopically, the tumor showed atypical spindle, polygonal or oval-shaped cells with a high nuclear grade, and vascular invasion. Immunohistochemistry was positive for alpha-smooth muscle antigen (α-SMA), human melanin black-45 (HMB-45) and melan A. The pathological diagnosis was malignant PEComa. In the 6 months after surgery, the patient complained of shoulder pain. MRI showed a dumbbell-shaped tumor at the 2nd thoracic vertebrae, which was confirmed to be bone metastasis of PEComa. After chemotherapy, including ifosfamide and doxorubicin, vertebrectomy was performed. Two years later, thoracoabdominal CT showed a 10-cm solid mass occupying the pelvis and a 15-mm nodule in the middle lobe of the right lung. Under a diagnosis of peritoneal and lung metastases, they were surgically removed and metastasis of PEComa was pathologically confirmed. Four months after the 2nd relapse, pelvic metastasis appeared again and mTOR  inhibitor was initiated. To our knowledge, this is the first report of malignant hepatic PEComa in a pediatric patient.A 10-year-old boy visited a private clinic with prolonged fever of unknown etiology. Abdominal ultrasonography was performed to evaluate the fever’s origin, revealing a large tumor in the liver. He was thus referred to a nearby hospital to investigate the tumor further. Enhanced computed tomography (CT) showed a 6.8 × 5.9 × 10.5-cm solid lesion on S4 and S5. On magnetic resonance imaging (MRI), the tumor had a low signal intensity on T1 imaging and high signal intensity on T2 imaging, with partial diffusion restriction. Although extremely rare, malignant hepatic PEComa can develop in a child. The term perivascular epithelioid cell neoplasm (PEComa) was first described by Zamboni et al. in 1996 . This grHowever, the definitions of PEComa and AML have often been confused. Strictly, the term ‘PEComa’ is reserved for the group of tumors and is also used to refer to relevant lesions that cannot be specifically classified as AML, CCST or LAM . HoweverTo our knowledge, there have been no previous reports of a malignant hepatic PEComa developing in a child. Therefore, we report the first pediatric case of a malignant PEComa that developed in the liver of a 10-year-old boy.A 10-year-old boy who was otherwise healthy visited a private practice due to high fever, which had persisted for about 1 month. A blood test showed a high level of C-reactive protein , so he was referred to a nearby hospital for a further investigation.18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) showed the marked uptake of FDG by the tumor, with an early maximum standardized uptake value (SUVmax) of 8.8 . Enhanced computed tomography (CT) showed that the tumor was mainly located at S4 and S5 in the liver Fig. . The tumThe levels of tumor markers, including α-fetoprotein (AFP), protein induced by vitamin-K antagonist-II (PIVKA-II), carcinoembryonic antigen (CEA), and carbohydrate antigen 19-9 (CA19-9), were all within the normal limits. Based on these findings, the most likely differential diagnosis was suspected to be undifferentiated sarcoma; thus, he was referred to our hospital for surgical treatment.®; Erbe Elektromedizin GmbH, Tubingen, Germany) using the Pringle maneuver while confirming the tumor location using intraoperative ultrasonography. The dorsal portion of Segment 8 was successfully preserved. The blood supply of the area was confirmed by intraoperative ultrasonography after resection. Finally, the tumor was resected en bloc with a margin. The operative time was 521 min, and the blood loss was 490 ml. He was transferred to the previous hospital on postoperative day 12. Macroscopic findings showed a yellowish white, solid tumor of 10 × 9 cm in size with hemorrhage and necrosis , and the indocyanine green retention rate ICG-R15) was 2.9%. On enhanced CT just before the operation, the tumor was 8.7 × 10.4 × 13.1 cm in size, showing marked growth within a one-month period. We planned to perform elective surgical resection by laparotomy. At the operation, a large mass was located in the central portion of liver with no findings of peritoneal dissemination or intra-abdominal metastasis. The tumor involved liver segments 4, 5 and 8; however, the dorsal portion of segment 8 had been spared. The tumor did not actually invade Glisson’s sheath at the liver hilum, and the distance between the tumor and the umbilical portion of portal vein was 1 cm. After removing the gallbladder, hepatic parenchymal transection was performed with a water-jet hybrid knife  has been considered mandatory for a majority of patients ; howeverThe definitive criteria for distinguishing between benign and malignant lesions have not yet been established for PEComa. Folpe et al. proposed criteria for categorizing PEComas into three groups according to their pathological characteristics: benign, malignant and uncertain malignant potential . The wor18F-FDG PET/CT has also shown potential utility in the differentiation of malignant and benign PEComas. Previous reports have shown that all malignant PEComas (n = 4) demonstrated an intense FDG uptake in both the primary lesion and metastatic foci, with SUVmax values ranging from 3.19 to 72.2. However, 55 of 62 benign PEComas exhibited a low or negative FDG uptake on PET imaging, with SUVmax values lower than 2.0. [han 2.0. , 16.Surgical resection is believed to be the only curative treatment for PEComa. In the adult cases of malignant hepatic PEComa, lobectomy was most often performed, followed by trisegmentectomy, and partial hepatectomy Table . One casNo effective medical treatment has been established for patients with advanced disease. Some authors have reported the efficacy of sirolimus, an oral mTOR inhibitor, for metastatic PEComa patients –23. The Some researchers have proposed a short-term observation strategy , 26. AccAlthough extremely rare, malignant hepatic PEComa can develop in a child. It is important to achieve an accurate diagnosis of PEComa and to include it in the differential diagnosis of large liver masses, regardless of the patient’s age. Complete resection is the most important factor for ensuring long-term survival.


Glomus tumors (GTs) are rare benign tumors as a result of hyperplasia of glomus body. GT most commonly involves the subungual areas and rarely involves extra-digital sites. The clinical presentation of a glomus tumor is a triad of symptoms consisting of pain, cold intolerance, and pinpoint tenderness. Even though glomus tumors are benign, they can infrequently be malignant. Despite their benign nature, these lesions can cause disabling symptoms, therefore proper diagnosis and treatment is important. In this report, we present a 35-year-old Saudi male with a painful lesion on the right side of the chest wall at the posterior axillary line for seven years, with recent progressive growth and symptoms. Diagnosis of extra-digital glomangioma of the chest wall in this patient was confirmed by histopathology. The patient was managed by complete surgical excision of the lesion with the resolution of pain and without recurrence. Glomus tumors (GTs) are benign neoplastic lesions arising from proliferating neuromyoarterial structures. These structures are also called glomus bodies. The glomus bodies are found in the stratum reticularis of the dermis throughout the body. They participate in thermoregulation and control blood pressure by changing blood flow in the skin . They reHowever, 60% of extradigital GTs cases are seen on the upper extremity, and only 24% are seen on the trunk area [We present the case of a 35-year-old Saudi male engineer who has no past medical or surgical history. He was referred by dermatology to our plastic surgery clinic at Almoosa Specialist Hospital, Al-Ahsa, Saudi Arabia. The patient presented with an atraumatic painful single small well-circumscribed bluish papule over the right side of the chest wall along the posterior axillary line, for the past seven years Figure . He compGross histopathological analysis revealed a single small well-circumscribed bluish papule originating from the right-sided chest wall. Microscopic examination showed a circumscribed mass with an abundance of vasculature components consisting of dilated capillaries that are lined by endothelial cells surrounded by multiple layers of glomus cells Figures -4. A gloGlomus bodies also called neuromyoarterial structures are a specialized form of arteriovenous anastomosis that are predominantly found within the reticular dermis. These bodies are responsible for the regulation of the temperature and blood pressure through peripheral blood flow. The tumor develops as a result of hyperplasia of the glomus body . In 1812Although the GTs are benign, malignancies were reported in few cases that presented as extradigital GT like in the esophagus , thyroidGTs occur frequently in the subungual area where glomus bodies are prevalent. Around 25% occurred in an unusual location making diagnosis difficult. GTs of the subungual area are predominantly seen in females. Other sites are not associated with gender but predominantly affect adults aged between 40 and 70 years ,16. ExtrThey can be found as a single or multiple lesions. Usually, multiple lesions are inherited as autosomal dominant in the globulin gene on chromosome 1p21-22 . FurtherThe classical clinical triad presentation is pain, with pinpoint tenderness localization, and cold hypersensitivity. Examination reveals a positive Love test  and a Hildreth test (relief of pain and tenderness while a cuff is inflated around the affected limb) . ExtradiThe diagnosis of GT can be established by imaging studies and confirmed by histopathology. Ultrasound (US) was initially used for locating the lesion and measuring its size. Doppler US is used for assessing the blood flow surrounding the lesion. Magnetic resonance imaging (MRI) has a high sensitivity of 90%, specificity of 50% with 97% positive predictive value, and a low negative predictive value of 20%. Even though this demonstrates that a negative MRI does not rule out a GT, it is useful in other differential diagnoses such as benign neural cell tumors like schwannomas, neuromas, and neurofibromas . ExtradiGTs are classified histologically into three types based on the predominant component. The first type is solid, consisting of only a glomus body with poor vasculature and sparse smooth muscle. The second type is glomangioma with a prevalent vascular component. The third type is glomangiomyoma containing the glomus body, prevalent vascular and smooth muscle components . Our patComplete surgical excision is the main treatment for a single lesion of GT with the resolution of symptoms . A retroExtradigital GT may be challenging to diagnose due to their occasional atypical presentation and location. Therefore, it is essential to include the glomus tumor in the differential diagnosis of a patient presenting with an extradigital well-localized painful or asymptomatic subcutaneous lesion. Early diagnosis is important to avoid a delay in treatment causing chronic pain and impairing the quality of life. Complete excision is the effective and curative treatment and histopathologic analysis confirms the diagnosis.


Presentation of a case of Leber hereditary optic neuropathy (LHON) with arterial sheathing eleven years after initial loss of vision.A 46-year-old female was referred for re-evaluation of Leber hereditary optic neuropathy. She first noticed rapid painless loss of vision eleven years prior. Fundus imaging performed at that time did not demonstrate arterial sheathing. Genetic testing revealed the presence of the LHON 11778 G-A mitochondrial mutation. Laboratory values were within normal limits save for angiotensin-converting enzyme elevated to 69 U/L. Eleven years later, visual acuity was count fingers at 12 feet with complete loss of color vision. Funduscopic examination of the optic nerve revealed bilateral pallor, sheathing of the retinal arteries, diffuse vessel narrowing, and tortuous retinal vessels.We present a case of LHON that demonstrates retinal arterial sheathing and possibly broadens the spectrum of LHON fundus findings. •Fundus examination of patients with Leber hereditary optic neuropathy may reveal arterial sheathing.•Arterial sheathing may appear in the chronic phase of Leber hereditary optic neuropathy.•There are previous published cases of vascular sheathing in Leber hereditary optic neuropathy. Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that causes loss of central vision. Mutations in mitochondrial DNA, the most common being at position 11778,2A 46-year-old female was seen for re-evaluation of Leber hereditary optic neuropathy. She noted acute bilateral painless loss of vision eleven years prior that progressed over 48 hours and stabilized without improvement. Fundus imaging performed at that time did not demonstrate sheathing A and B. On recent exam her visual acuity was counting fingers at 12 feet OU. Her pupils were equal without an afferent pupillary defect. Extraocular movements were full with intact pursuit and saccades. Amsler grid testing showed no evidence of metamorphopsia. She was unable to see any AO/HRR pseudoisochromatic plates. Slit lamp examination revealed clear corneas with no evidence of keratic precipitates and quiet and deep anterior chambers. Her irides had no nodules or synechiae, and her lenses were clear. Intraocular pressure as measured by Goldmann applanation tonometry was 15 mm Hg in both eyes. Funduscopic examination of the optic nerve revealed bilateral marked pallor. The maculae were normal bilaterally. The retinal arteries were sheathed, and her retinal vessels were mildly tortuous with decreased arterial and venous caliber C and D. 3,LHON must be considered for patients presenting with cryptogenic optic neuropathy, including female patients and patients without family history.,,Sheathing of retinal vessels, for retinal arteries and veins alike, is described clinically as retinal vasculitis and may be accompanied by other manifestations including leakage or occlusion.The inflammatory sheathing observed in the vasculitides described above are distinct from the non-inflammatory sheathing associated with other causes, such as in arteriosclerosis.Herein is a case of LHON with arterial sheathing seen 11 years after visual loss. This case broadens the clinical spectrum of LHON fundus findings to include retinal arterial sheathing in the chronic state.4This case of LHON demonstrates arterial sheathing, with eleven years follow up after the acute phase.Consent to publish the case report was not obtained. This report does not contain any personal information that could lead to the identification of the patient.No conflict of interest exists.No funding was received for this work.We confirm that we have given due consideration to the protection of intellectual property associated with this work and that there are no impediments to publication, including the timing of publication, with respect to intellectual property. In so doing we confirm that we have followed the regulations of our institutions concerning intellectual property.We further confirm that any aspect of the work covered in this manuscript that has involved human patients has been conducted with the ethical approval of all relevant bodies and that such approvals are acknowledged within the manuscript.All listed authors meet the ICMJE criteria. We attest that all authors contributed significantly to the creation of this manuscript, each having fulfilled criteria as established by the ICMJE.We confirm that the manuscript has been read and approved by all named authors.We confirm that the order of authors listed in the manuscript has been approved by all named authors.


Neonatal intestinal ganglioneuroma and neurofibromatosis are rare in neonates. It is a challenging pathology to diagnose and treat. A 3‐week‐old full‐term newborn with a birth weight of 3.5 kg of Arabic ethnicity presented to the emergency department with a recurrent refractory intestinal obstruction. The patient has been diagnosed initially with intestinal obstruction secondary to malrotation and then operated again because of adhesion and internal herniation. Finally, after the third laparotomy, the patient was diagnosed with intestinal ganglioneuromatosis and neurofibromatosis. We reviewed the literature on the diagnosis and management of this rare pathology among neonates and to increase the awareness of it. Intestinal ganglioneuromatosis is a rare neonatal pathology. The clinical presentation of intestinal ganglioneuromatosis is similar to that of intestinal obstructions caused by many other diseases. Ganglioneuromatosis is differentiated from other differential diagnoses based on histopathology. Early diagnosis is vital to ensure appropriate management. Intestinal ganglioneuromatosis presentation is like that of intestinal obstructions caused by many other diseases. Ganglioneuromatosis is differentiated from other differential diagnoses based on histopathology. Multidisciplinary approach for diagnosis and management is needed to avoid unnecessary surgical intervention. Although ganglioneuromas typically develop from sympathetic ganglia and adrenal glands, some arise from the viscera. Intestinal ganglioneuromas are rare and more commonly found in children than in adults. Ganglioneuromas consist of three subgroups: (1) polypoid ganglioneuromas, (2) ganglioneuromatous polyposis, and (3) diffuse ganglioneuromatosis.2A 3‐week‐old female neonate presented to our outpatient clinic with a complaint of abdominal distention with no vomiting or constipation. Small amounts of well‐formed stools were passed on a regular basis. On physical examination; a 3.5 kg female patient with a severely distended abdomen, soft, and lax, with no tenderness. All other gastrointestinal and other systemic findings were relatively normal apart from multiple cafe‐au‐lait spots all over the body Figure . In the Seven days later, the patient developed severe abdominal distention again, with signs of an intestinal obstruction. A second emergency exploration laparotomy was done. Intraoperatively, we found an adhesion between the stump of the appendix and ileum, with intestinal internal herniation in between. Figure A,B,C. MuThe infant, who lived in a rural area far from the hospital, did not attend the hospital again until 3 months later. The patient presented again with the complaint of an intestinal obstruction. The infant's mother declared that the infant had regular stool motions until 5 days prior to the presentation. On examination, the infant appeared unwell, with severe dehydration and severe abdominal distention indicative of recurrent intestinal obstruction. A diagnostic contrast enema was administered through the anus and ileostomy showed a small bowel obstruction  scan performed later showed a transition zone about 4 cm distal to the stoma, a 3‐cm‐long segment of stricture, and a 4‐mm thickened wall, with no evidence of a bowel mass. There was evidence of malrotation of the bowel loops, with reversal of the superior mesenteric artery and superior mesenteric vein, with an abnormal location of the bowel loops Figure A‐D. AftePostoperatively, the patient was stable and was discharged in quite a good condition.The histopathological examination of the specimen revealed macroscopically an area with a double lumen and a thickened wall in the dilated terminal ileum Figure A,B. MicrThe patient was referred to an oncological center for further management; all histopathological slides and specimens have been sent with the patient as well.3Neurofibromatosis is a common autosomal dominant hereditary tumor syndrome, caused by alterations of the neurofibromatosis gene type 1.Gastrointestinal involvement in neurofibromatosis occurs in three forms: visceral vasculopathy, ganglioneuromatosis, and solitary neurogenic tumors. Intestinal ganglioneuromatosis is a rare condition, which is more common in children than in adults.The clinical presentation of intestinal ganglioneuromatosis is similar to that of intestinal obstructions caused by megacolon, tumors in the ileum or colon, Crohn's disease, tuberculosis, fibrous inflammatory polyps, and multiple schwannomas of the colon. All are differential diagnosis.In addition to a full laboratory workup and a complete hemogram, the diagnostic workup includes histopathology. It helps the physician to rule out other tumors. A colonoscopy is the most common diagnostic test, although this is difficult among patients of neonatal age. Other radiological investigations include abdominal X‐rays and CT scans.Both ganglioneuromatosis and surgery are associated with a number of significant risks. These include disease recurrence, infection at the surgical site, and the development of intestinal obstructions and volvulus.4The incidence of neonatal intestinal ganglioneuromatosis is very low, and a prompt diagnosis is crucial for its management. Surgical resection is the definitive treatment. The potential association with other diseases complicates the overall management. Neonatal intestinal ganglioneuromatosis and neurofibromatosis require further workups to eliminate other possible associations.Hereby, I, Madani Essa, consciously assure that for the manuscript "Neonatal Intestinal Diffuse Ganglioneuromatosis with Plexiform Neurofibromas; Diagnostic and Management Pitfalls: A Case Report" the following is fulfilled: (1) This material is the authors’ own original work, which has not been previously published elsewhere. (2) The paper is not currently being considered for publication elsewhere. (3) The paper reflects the authors’ own research and analysis in a truthful and complete manner. (4) The results are appropriately placed in the context of prior and existing research. (5) All sources used are properly disclosed (correct citation). Literally copying of text must be indicated as such by using quotation marks and giving proper reference.Hereby, I, Madani Essa, confirmed that patient consent has been signed and collected in accordance with the journal's patient consent policy. I confirm that the data supporting the findings of this study are available within the article and its Supplementary material. Raw data that support the findings of this study are available from the corresponding author, upon reasonable request. I confirm that This research received no external funding


When faced with a hypervascular mediastinal tumor, mediastinal hemangioma should be taken into consideration. Although it is uncommon, considering this important diagnosis may avoid a possible extensive surgery that is not necessary. When faced with a hypervascular mediastinal tumor, mediastinal hemangioma should be taken into consideration. Although it is uncommon, considering this important diagnosis may avoid a possible extensive surgery that is not necessary. Here, we report a 36‐year‐old woman presenting with dyspnea who underwent surgery to excise a mediastinal mass. The final diagnosis was cavernous hemangioma. Preoperative and intraoperative consideration of mediastinal hemangioma is essential in order to avoid unnecessary extensive surgery.Mediastinal hemangioma is a rare tumor that consists of only 0.5% of masses located in the mediastinum. It has histological varieties, which are classified into cavernous, capillary, and venous types.This tumor is generally well circumscribed, but may be infiltrated into the surrounding tissue. It generally requires surgical excision, despite its benign nature. Mediastinal hemangiomas have no specific symptoms. A variety of clinical manifestations might occur, such as a cough, mild dyspnea, respiratory distress, or chest pain.Here, we report a case of mediastinal hemangioma presenting with dyspnea, in the time of COVID‐19 pandemia.2A healthy 36‐year‐old woman with no past medical and familia histories presented to the clinic with a chief complaint of dyspnea since three months ago. The dyspnea was persistent during the time without limiting the daily activities. Also, there were no aggravating and alleviating factors. Vital signs at the presentation were stable. The patient had normal breath sounds in all segments of the lungs. Initial paraclinical evaluations including complete blood tests, blood biochemistry assessment, and COVID‐19 PCR test were all normal. Chest radiograph showed a mediastinal widening, indicating the presence of a mediastinal mass. Therefore, a CT scan was performed that demonstrated a heterogeneous lesion in the right anterior mediastinum Figure . The pos3Mediastinal masses are divided into anterior, middle, and posterior according to their location. Each of these subclasses is suggestive of a different differential diagnosis, but a mass in any of the three locations can demonstrate hypervascular features.Mediastinal hemangioma is a rare tumor, which was first reported by Shenan in 1914. These tumors are classified as capillary, cavernous, or venous, according to the size of the vascular structure. More than 90 percent of them are cavernous or capillary.The International Society for the Study of Vascular Anomalies (ISSVA) classification has classified mediastinal hemangioma into benign vascular tumors. These tumors, which mostly present before the age of 35, may occur at the anterior or posterior mediastinum, although the anterior location is slightly more prevalent. There are also reports of middle mediastinal location. Differential diagnoses of hypervascular anterior mediastinal masses, which should be considered, include castleman disease, paraganglioma, vascular malformation, hypervascular metastasis, and ectopic parathyroid adenoma.As many as 50% of the reported cases of mediastinal hemangioma have been asymptomatic, discovered during a routine checkup imaging or an investigation for some other reason. Spontaneous regression is also possible similar to angiomas in other sites. However, many display clinical features of proliferation depending on the location and the underlying condition. Depending on the origin and size, intrathoracic lesions may be associated with cough, dyspnea, chest pain, hemoptysis, congestive cardiac failure, respiratory distress, or a clinical picture referred to as the Kasabach‐Merritt syndrome, which is a result of platelet consumption inside the angioma.Although most cases are generally envisioned as well‐circumscribed masses on imaging studies, some can display a wide range of radiological features like dumbbell tumors or infiltrative lesions.Thoracic CT scans generally demonstrate a heterogeneous well‐circumscribed mass, but there are few reports of infiltrative appearance. Multiple, punctate, and rounded calcifications are reported in many cases. McAdams et al performed a retrospective study of CT scan features in 14 cases of mediastinal hemangioma. Ten demonstrated heterogeneous attenuation after contrast administration, 6 cases had a pattern of central increased attenuation similar to or greater than that of the vascular structures, and 2 cases showed a mixed pattern of increased central and peripheral attenuation. In one case, only peripheral attenuation was reported.Early reports indicate that there is little diagnostic use in transthoracic needle aspiration biopsy of mediastinal hemangiomas.In addition to surgery, utilization of other treatments including radiotherapy or the support of veno‐venous extracorporeal membrane oxygenation (VV‐ECMO) is reported, especially in critical situations such as massive hemoptysis and Kasabach‐Merritt syndrome.4When faced with a hypervascular mediastinal tumor, mediastinal hemangioma should be taken into consideration. Although it is uncommon, considering this important diagnosis may avoid a possible extensive surgery that is not necessary.The authors declare no conflict of interest. The study was fully funded by the Deputy of Research and Technology of Mashhad University of Medical Sciences.D.O, M.E., and A. Sh. contributed to conception, design, and drafting of the manuscript. M.M.R. and M.D. contributed to data collection. M.A.F. and D.F. contributed to drafting of the manuscript. D.F. supervised the study. All authors approved the final version for submission.The study was approved by Qom University of Medical Sciences. The study conforms to recognize the standards of Declaration of Helsinki. Written informed consent was obtained from the patient.


We present a rare case of adult intussusception (AI) due to a small bowel fibroma, which presented as recurrent subacute symptoms. To our knowledge, this is the first reported case managed by intraluminal excision of the causative lesion by enterotomy as opposed to bowel resection. A 34-year-old woman presented with recurrent colicky abdominal pain. Computed tomography demonstrated ileoileal intussusception, with magnetic resonance imaging revealing a 2.3-cm intraluminal lesion acting as a lead point. The patient underwent laparotomy and the intussusception was reduced. Palpation of the lesion demonstrated a pedunculated polyp without suspicious features; so the lesion was resected via enterotomy as opposed to small bowel resection. Histopathological analysis diagnosed a benign fibroma. AI is a rare but important entity, with potentially devastating consequences for delayed diagnosis. The majority of lesions causing AI are benign and may be amenable to intraluminal resection via enterotomy, thus avoiding unnecessary bowel resection. Intussusception is the telescoping of one segment of intestine into an adjacent segment . This ca3/μl, normal range 5–10 × 103/μl) and serum lactate .A 34-year-old woman presented to the emergency department with colicky abdominal pain, having presented 3 months prior with similar symptoms. At that time, she was discharged after an unremarkable abdominal ultrasound scan and gastroscopy. Her abdomen was diffusely tender throughout on this occasion, with localized guarding in the upper abdomen. Haematological and biochemical investigations revealed a raised white cell count  of the abdomen and pelvis was performed, which demonstrated an intussusception involving 12 cm of mid-ileum in the right upper quadrant. No pathological lead-point for the intussusception was identified. Magnetic resonance imaging of the small bowel was then performed, identifying a 2.3-cm intraluminal lesion within the lumen of the ileum at the lead point.The patient underwent an exploratory laparotomy. The intussuscepted ileum was identified and manually reduced . The bowThe patient made a prompt recovery and was discharged 7 days post-operatively. She remains well at outpatient follow-up. Histopathological examination resulted in a final diagnosis of a benign fibroma with clear margins.AI is a rare entity with potential for severe complications if not recognized . While PThe vast majority of reported cases of AI advocate for surgical management . This isNone declared.None.Obtained from the patient and documented in the medical notes.


Alveolar soft part sarcoma (ASPS) is a rare, highly vascular, deep soft tissue mesenchymal malignancy that is classically seen in the lower extremities of young adults. We reported a case of a 32-year-old young Chinese woman in Hong Kong with a biopsy-proven alveolar soft part sarcoma. The condition can be suggested by classical features using contrast-enhanced CT scans and MRIs or confirmed by image-guided biopsies. Early recognition of the condition is important due to its poor prognosis and lack of awareness. The mainstay of treatment for ASPS is complete surgical resection of the primary tumor and radiotherapy for microscopic residual disease at the primary site, or chemotherapy in special cases. Typically, ASPS arises in muscles and deep metastasesAlthough ASPS displays a relatively indolent course, the ultimate prognosis is poor, and is often characterized by late A 32-year-old Chinese young woman was evaluated for right buttock pain for 2 weeks. She had good past health. The physical examination revealed a localized swelling and erythema over the right buttock. Her blood sample values were normal.She then underwent a CT examination in which her scan revealed a large irregular enhancing tumor centered at the right gluteus maximus muscle. It was associated with hypertrophied intralesional and peritumoral vessels. Central hypoenhancement was suggestive of central necrosis. The lesion measured 6.8 cm x 5.3 cm x 8.0 cm in size. There were a few small enhancing nodules medial to the primary lesion (∼1 cm), those lesions likely represented satellite nodules. The tumor abutted the pyriformis medially and the gluteus medius muscle anteriorly. Right sciatic nerve was probably involved or in close proximity to the lesion. There was a marked increase in neovascularity in the right gluteus maximus and medius muscles which were swollen, and in the subcutaneous tissue in the right buttock. Features were suggestive of a highly vascular soft tissue tumor .Fig. 1CoThere was an arterial enhancing nodule at the segment VII of liver (1.6 cm), suggestive of a vascular liver metastasis. Numerous lung nodules including lung bases were in keeping with extensive lung metastases. No pleural effusion was present. .Fig. 2CoThe patient underwent an ultrasound investigation. The scan showed a highly vascularized soft tissue mass in the right gluteal region, associating with prominent vessels at the lateral subcutaneous aspect. It measured 7.5 × 3.4 × 7.3 cm in size.  Overall features were highly suspicious of malignancy in particular soft tissue sarcoma. Ultrasound guided biopsy was performed .Fig. 3UlPathology microscopic examination showed cores of tumor tissue composed of nests of tumor cells forming pseudo-alveolar patterns and separated by thin sinusoidal vascular spaces. The tumor cells showed moderate to marked nuclear hyperchromasia and pleomorphism, inconspicuous to prominent nucleoli, and granular eosinophilic cytoplasm. Mitosis was rare and focal necrosis was seen .Fig. 4H&Subsequent F18-FDG positron emission tomography (PET) scan confirmed a hypermetabolic biopsy proven residual tumor at right gluteus maximus muscle with adjacent hypermetabolic tumorous satellite nodule, extensive non or mildly FDG avid bilateral lung metastases.  Mildly FDG avid lytic bony lesion at central S1 vertebral body, worrisome of residual bony metastasis. Non hypermetabolic enhancing nodule at segment VII of liver . EnsuingThe patient refused any radiotherapy and after a multidisciplinary team meeting,  she was started on neoadjuvant chemotherapy instead,  consisting of pembrolizumab, and axitinib. The PET scan which was 5 months later showed metabolic response and interval reduction in the sizes of the primary tumor, neighboring satellite nodules, lung, and bone metastases. She was later arranged to have primary tumor resection.Other differential diagnoses include undifferentiated pleomorphic sarcoma (UPS), previously known as malignant fibrous histiocytoma (MFH), is considered the most common type of soft tissue sarcoma ynovial sarcoma is a slow-growing and superficial tumor, without hypervascularity as a special feature. It often showed calcification, necrosis, and hemorrhage On the other hand, angiosarcomas frequently have metastases at the time of diagnosis, but are more common in males. Ssoft tissue sarcomas. There is a slight female predilection in patients less than 30 years old.Alveolar soft part sarcoma (ASPS) is a rare, highly vascular, deep soft tissue mesenchymal malignancy that is classically seen in the lower extremities of young adults. They account for <1% of all Typically, ASPS is a slow-growing tumor, and often comes to clinical attention late in the disease process. About 65% of adults and 30% of children present with metastatic disease in the lungs, brain, bone, and/or lymph nodes. The prognosis of patients with ASPS is poor. In a large study by Lieberman, survival of 102 subjects dropped from 87% at 2 years to 18% at 20 years In adults, ASPS has a propensity for the lower extremities but can arise in unusual locations such as bone. In children, ASPS may arise in the head and neck, particularly the orbit and tongue. The diagnosis of ASPS relies on histopathology, immunohistochemistry, and molecular features. Histologically these tumors have a uniform pattern characterized by a pseudo alveolar or organoid arrangement of polygonal tumor cells separated by fibrovascular septa and delicate capillary-sized vascular channels . A characteristic unbalanced translocation, der(17)t(X:17)  results in the formation of an ASPL–TFE3 fusion protein. This translocation is seen almost exclusively in ASPS . An antibody directed against the C-terminus of the TEF3 protein is a highly sensitive and specific marker for ASPS. It has been suggested that the increased incidence of ASPS in females is related to their 2 X chromosomes, which doubles the probability of this translocation as compared to males.The most consistent imaging feature of ASPS in one study was the presence of intra and peri-tumoral vessels which are large vessels at the superior and inferior poles that were evident by MRI and CT and seemed to converge toward the center of the tumor These features are also consistent with others who reported the highly vascular nature of ASPS on imaging studies. The conventional angiographic findings of ASPS all describe similar findings on angiography. This hypervascular tumor demonstrates numerous enlarged vessels with arteriovenous shunting in the arterial phase followed by intense tumor staining The mainstay of treatment for ASPS is complete surgical resection of the primary tumor and radiotherapy for microscopic residual disease at the primary site. In adults, ASPS is less effectively treated by standard chemotherapy but may still be considered in special cases.Informed consent has been taken from the patient described in this case report.Case reports and case series require informed consent, which should be documented in the paper. Studies on patients or volunteers require ethics committee approval and informed consent, which should be documented in the paper. Appropriate consents, permissions and releases must be obtained where an author wishes to include case details or other personal information or images of patients and any other individuals in an Elsevier publication. Written consents must be retained by the author but copies should not be provided to the journal. Only if specifically requested by the journal in exceptional circumstances  the author must provide copies of the consents or evidence that such consents have been obtained. For more information, please review the Elsevier Policy on the Use of Images or Personal Information of Patients or other Individuals. Unless you have written permission from the patient , the personal details of any patient included in any part of the article, and in any supplementary materials  must be removed before submission.


To demonstrate and analyze the relatively common imaging findings in this rare primary pleural angiosarcoma (PPA).Three cases of PPA, proven by video-assisted thoracic surgery biopsies are retrospectively reviewed. Patients were all male. Age ranges from 65 to 75 years old age . Major chief complaints were dyspnea and chest pain. One has a history of colon cancer, the other has a tuberculosis history and the other has no known history. Multidetector chest CT and PET CT were all done. Immunohistochemical studies were performed including CD31, CD34, or factor VIII-related antigen, vimentin, and cytokeratin. We also review the literatures on recently published PPA. All masses were from 1 to 10 cm. All three patients had multiple pleural based masses, which were ovoid in shape with relatively sharp margin in unilateral hemithorax. Multiple small circumscribed pleural masses are limited in the pleural space in two patients, whereas two, huge lobulated masses about up to 10 cm were present with pleural and extrapleural involvement in one patient. In two patients with pleural mass only, multiple pleural masses were only seen in parietal pleura in one patient and were in both visceral and parietal pleura in one patient. Pleural effusion were found in one side in one patient and in both sides in one patient. One angiosarcoma was arised from chronic tuberculotic pleurisy sequelae. All pleural masses are heterogenous with irregular internal low densities in all patients. Hematogenous metastases were found in liver, vertebra, rib in one patient, and were in lungs with mediastinal lymph node metastases in the other patient. Three patients survived for longer than 3months after diagnosis, but continued to deteriorate rapidly. Two patients underwent chemotherapy after surgical excision, and the other one with multiple metastases treated chemotherapy after CT-guided biopsy, but eventually all died. As a result of comparative analysis of a total of 13 patients’ images including 10 cases previously published, there was pleural effusion in all except 2 cases.PPA were all necrotic without any vascularized enhancing nature, and manifested as unilateral circumscribed or localized pleural-based masses.The online version contains supplementary material available at 10.1186/s40644-021-00435-1. Angiosarcoma is a rare malignant tumor that originates in the endothelial cells of blood vessels within the skin, soft tissue, breast, liver, spleen, and other organs. This disease accounts for only 1 – 2% of the total soft tissue sarcomas. According to previous radiologic reports, thoracic angiosarcoma can be classified into lung, mediastinum, pleura, and chest wall origins, depending on where it occurs (1). Lung metastases from extrathoracic angiosarcomas have been described and are common in the natural history of angiosarcoma in the thorax. Primary pleural angiosarcoma (PPA) was first reported in 1943, which is an extremely rare malignancy [Until recently, only about 19 PPA patients had been reported in the English literature (3). All PPA cases to date were reported by pathologists, oncologists or cardiothoracic surgeons. The radiologic findings in the PPA cases known to date were nonspecific. We analyzed our three cases more details in the radiologic images and compared them with previously reported cases.We retrospectively reviewed chest multidetector computed Tomography (MDCT) and positron emission tomography-computed tomography (PET CT) images for the most recent three years in three patients diagnosed with PPA. All three patients were male and the mean age was 69 years . Their chief complaints were dyspnea, chest pain, and cough for about one month. Three had no history of occupational disease, including asbestosis exposure. One of the three was treated for tuberculosis (TB) 40 years ago and later developed TB chronic empyema. Another patient was diagnosed with synchronous cancer (colon cancer) by colonoscopy performed at the time of the visit Table . All thrThese patients were finally identified with PPA using immunohistochemical studies, including CD31, CD34, factor VIII-related antigen, vimentin, S-100, and cytokeratin, in tissues obtained through video-assisted-thoracic-surgery (VATS) biopsies. According to the pathology papers written by Hart et al. (4), epithelioid angiosarcoma (EA) consists of sheets, nodules, and trabeculae of infiltrative epithelioid to spindled cells with intensely eosinophilic cytoplasm, and shows strongly positive reactivity for factor VIII, CD31, Fli-1, and vimentin and almost negative reactivity for S100. However, the tissues are mainly positive for cytokeratin (CK), but can variably display CD34 and epithelial membrane antigen (EMA) positivity. We set the criteria for differentiation based on the degree of cytologic atypia and mitoses, the focal areas of vessel formation, and a sheeted growth pattern comprising most of the malignancy to differentiate epithelioid hemangioendothelioma from epithelioid angiosarcoma .All enhanced CT images were obtained during full inspiration in the supine position using a MDCT scanner with 64 or more channels. The detailed CT parameters were tube voltage, 120 kVp; tube current standard dosage  with automatic exposure control; and slice thickness, 1.5 – 2 mm. The CT images were evaluated with both lung  and mediastinal  window settings. Each image was analyzed by two thoracic radiologists with 27 and 5 years of experience, respectively, as faculty chest radiologists.In the analysis of the published article, only patients with chest plain and/or CT images were used. The image results were based on the paper descriptions, as correlated with the relevant figures. Thus, the characteristics were focused on the image findings of the 10 patients collected.This study was approved by the Institutional Review Board of the three hospitals and informed consent was not required.Our cases were diagnosed as epithelioid type PPA by pathologic examination. All immunochemical reactions except for cytokeratin were strongly positive. Table First, a 65-year-old male presented with dyspnea without known underlying disease or specific history. There was a large amount of bilateral pleural effusion (R > L) on the chest plain and chest CT, taken at the time of admission. Additionally, the chest CT showed multiple, 1 – 2 cm-sized pleural-based nodules, just in the left parietal pleural sites and smooth, thin parietal pleural enhancement on contrast-enhanced CT. Bloody pleural effusion drainage was performed and malignant cells were identified on cytologic examination . One mass seemed to have arisen from preexisting pleural calcific plaques. There were accompanying distant metastases . Also, there were multiple metastatic lymph nodes in both lower paratracheal, subcarinal, both hilar, and left interlobar areas. CT-guided lung biopsy using 17 gage(G) coaxial cutting needle was performed to obtain the tissues to fix in the formalin. Specimens by CT guided biopy was mostly suitable for large extrapleural mass. In immunohistochemical staining, CD31, CD34, factor VIII-related antigen, and vimentin were strongly positive, but calretinin and CK5/6 were negative. Under an angiosarcoma diagnosis, although chemotherapy . In our study, immunohistochemical study is the gold standard for final diagnosis. However, since there were no previous reports based on MDCT scans, we decided to look at the recently discovered PPA cases from a radiological point of view. In our patients, all cases appeared as nodule forms, whereas the published reports showed pleural nodules in 40% of the patients (four of 10 cases). In the first patient, pleural nodules ranging from 1 – 2 cm were found in the parietal pleural layer with ipsilateral small pleural effusion on enhanced chest CT. In the contralateral ribcage, a large amount of pleural effusion was accompanied, but tiny parietal pleural nodules were few. We could think that angiosarcoma was developed at the site of the pleural nodule and then extended to the other side. Patient 3 presented with unilateral circumferential visceral and parietal necrotic masses about 2.8 – 10 cm and huge pleural effusion. It looked like malignant mesothelioma, but the patient did not have an occupational history. Although any highly enhancing areas were carefully searched, we did not see any foci as vascular-like enhancing structures or extravasation of the contrast media in the pleura. Instead we could recognize the hemorrhagic nature of the effusion because of the high-density pleural fluid on the pre-enhanced CT scan. Hemorrhagic pleural fluid (about 4000 cc) was evacuated in the surgical fields (pleurodesis). These two cases manifested as multiple pleural masses that could not be differentiated from metastatic pleural malignancies  or mesothelioma on CT scans, or especially mesothelioma, even on pathology (9).de novo tumors [The last case, patient 2, showed huge pleural and extrapleural masses that were somewhat unique among the reported PPA cases. It is the only reported case of such a huge mass without pleural effusion. It seemed to be a kind of thoracic sarcoma (1). But, it had one characteristic; it was likely to be a pleural calcific sequela in the site of chronic TB pleurisy (arrows) . In the case of repeated large amounts of unilateral pleural effusion or hemothorax, the detection of tiny pleural nodules is important. The findings may also look similar to a hematoma . If the The outlook for pleural angiosarcoma is dismal. Chemotherapy and surgery are the most common treatments. However, even chemotherapy has little effect, and is only used to relieve the symptoms. Even that can hardly be considered for patients with poor performance. The effect of radiation therapy is very insignificant and difficult to apply for distant metastasis or diffuse pleural metastasis. Surgery is the best treatment for those patients who have localized chest wall lesions and is the key to long-term survival. In addition to chemotherapy, surgery is known to help  whenever possible , 9. VascChest MDCT could detect more malignant pleural nodules in all of our PPA patients compared to the radiologic images of previous reports. Pleural nodules, especially circumferential visceral and parietal pleural nodules with or without localized extrapleural tumoral spread, were important radiologic findings of these extremely rare PPAs. Also, If hemorrhagic effusion was incidentally and repeatedly encountered without any other specific findings, we should consider rare disease.Additional file 1.


Horseshoe kidney is a congenital anomaly, which consists of fusion of the lower poles of the kidneys. Cancer in a horseshoe kidney is common, possibly because of the increased risk of chronic obstruction, renal calculi, and recurrent urinary infection. We report a case of a 64-year-old male with a horseshoe kidney who presented to our hospital with gross hematuria and flank pain, which was highly suggestive of pyelonephritis. Comprehensive workup and imaging were performed and showed an extremely rare form of tumor consisting of three histological variants: squamous, glandular, and sarcomatoid. To the best of our knowledge, this is the first case reported with these three histological variants in a horseshoe kidney. Upper urinary tract urothelial carcinomas (UCs) are considered rare tumors and account for only 5%-10% of all the UCs . UC is dA 64-year-old Caucasian male smoker with a horseshoe kidney with a history of open pyelolithotomy 18 years ago, presented to King Abdulaziz Medical City in mid-2020 with a report from another hospital stating that he developed gross hematuria six months prior, which was treated as a urinary tract infection. A CT of the abdomen and pelvis was performed in that hospital, showing a horseshoe kidney with severe left hydronephrosis and enlarged retroperitoneal lymph nodes, with the largest one located in the posterior part of the left renal artery measuring 4.7 × 3.5 × 2.6 cm. Additionally, there were multiple stones . The MRI showed a horseshoe kidney with chronic hydronephrosis of the left kidney and a large mass within it centrally with further satellite lesions, which all likely represent UC and associated lymphadenopathy along the para-aortic chain Figure . AdditioStaphylococcus aureus being isolated. Abdomen and pelvis CT was performed to rule out any intra-abdominal collections, but it was negative. The urology team was consulted for his chief complaint, as his case is already known to them. On examination, they found that the abdomen was soft with lower left quadrant tenderness. They concluded that the pain was less likely to be from the left kidney as the CT findings were stable. Furthermore, based on the urine culture result, the patient was prescribed Bactrim and was given an appointment for admission a week later to perform a flexible ureteroscopy with biopsy.After a couple of days, the patient presented to the emergency department with non-radiating progressive lower abdominal and left colicky flank pain for three days with hematuria and constipation with fullness. The patient denied any history of fever or vomiting. There were no other genitourinary symptoms, scrotal pain, or change in the level of consciousness. Vital signs were measured and were as follows: blood pressure, 151/71 mmHg; heart rate, 109; respiratory rate, 20; and temperature, 37.1℃. The weight of the patient was 48.4 kg, and height was 166 cm. The chest was clear, while the abdomen was tender over the left side and the left flank area. Lab results were obtained  stent was inserted Figure . Urine cAfter two weeks, the patient presented to the emergency room complaining of left flank pain for five days with hematuria and constipation. The urology team was again consulted and suspected urinary tract infection at the site of the double J stent. Thus, the patient was admitted, given antibiotics, and was planned for the open left radical nephroureterectomy the following day. The surgery was successfully performed, and samples were sent to the histopathology department.Macroscopic examination showed a fairly-circumscribed, bulging, gray-white mass located mainly in the renal pelvis and mostly replacing the entire kidney. It measured 14 cm in maximum dimension. The mass cut sections were homogenous with areas of necrosis, with a stent present Figure . The masAccording to the American Joint Committee on Cancer (AJCC), the pathological stage is pT3N2Mx. After a couple of days, the patient underwent a cystourethrogram, and there was no leak. The patient was eventually discharged in good health the next day and was given an appointment. The plan of the oncology team was to start adjuvant chemotherapy and perform positron emission tomography-CT (PET-CT) for the suspicious distant lymphadenopathy. In addition, CT, cystoscopy, and urine cytology were supposed to be done regularly. However, the patient missed the appointment, so the current status of the patient is unknown.Horseshoe kidney is considered one of the most common congenital anomalies in the kidneys. It involves the two kidneys being fused at their lower poles by the isthmus, a region consisting of fibrous tissue and parenchyma . AccordiUpper urinary tract UCs are uncommon and account for only 5%-10% of all UCs, while bladder UCs are more common and account for 90%-95%. Having a variant histology worsens the prognosis of Upper urinary tract UCs compared to pure UCs. Additionally, variants are present in approximately 25% of upper tract UCs . In our Hematuria is considered the most common presenting symptom, and it is reported in 70%-80% of patients. Other less common symptoms include flank pain (20%) and flank mass (10%) . In our The sarcomatoid variant of UC of the renal pelvis is a rare type of cancer. It presents in males more than in females with a ratio of 2-3:1. The most common presentation of sarcomatoid UC is hematuria. The gross pathology reveals tumor that ranges from 2.5 to 12 cm in greatest dimension; exophytic; with a polypoid or pedunculated growth pattern; and, less often, sessile and diffusely infiltrative, with a typical appearance of areas of extensive necrosis. Microscopically, the tumor is composed of a mixture of malignant epithelial and spindle cells. The carcinoma component is most often urothelial cell carcinoma and less frequently squamous cell carcinoma, adenocarcinoma, small-cell carcinoma, or mixtures of these histological subtypes . The hisSquamous cell carcinoma of the upper tract is considered rare and develops most likely because of chronic inflammation and chronic infection . MoreoveIn the retrospective study of 115 cases, glandular differentiation of the renal pelvis constitutes five cases, and its incidence is unknown . The glaThe postoperative pathology staging suggested T3N2Mx using the AJCC 8th edition manual . The patThis pathological case of upper tract UC in a horseshoe kidney is extremely rare. Additionally, preoperative diagnosis and staging are difficult. Therefore, we wish that this case report will shed some light on the importance of early diagnosis to achieve better outcomes and curative effects for similar cases, especially in those with predisposing factors, such as a horseshoe kidney, in the upcoming years.


Calcifying pseudoneoplasm of the neuraxis are rare fibro-osseous lesions that can occur throughout the central nervous system. This paper reports one case of this lesion within the posterior fossa and contains a literature review of all cases documented within the posterior fossa to date. A 53-year-old female patient with a history of epiphora, facial irritation, and headaches was found to have a mass centered in the posterior fossa. The patient underwent surgical resection for removal of the mass. Upon review by pathology, the final diagnosis was consistent with calcifying pseudoneoplasm of the neuraxis. Calcifying pseudoneoplasm of the neuraxis (CAPNON) are rare fibro-osseous lesions first described by Rhodes and Davis in 1978  in origiCAPNON affects patients between the ages of 30 and 64 years with a slight predilection for males. Little is otherwise known regarding this rare lesion. Surgical resection remains the current mainstay of treatment for symptomatic CAPNONs for diagnostic and therapeutic purposes. Here we present a case of a posterior fossa CAPNON treated with surgical resection and review the literature on this rare disease.A 53-year-old female presented with a 4-year history of epiphora of the right eye, facial irritation, and remote ipsilateral brief headaches with a non-contributory past medical history. This irritation progressed to a persistent burning sensation along with episodes of shooting pain of the right face that were refractory to gabapentin. Persistence of the patient’s pain prompted an MRI brain that revealed a predominantly T1 and T2 hypointense extra-axial mass Figures -1E and nUpon completion of imaging, management options were discussed, including a recommendation for surgical resection, but the patient opted for further monitoring of the lesion. The patient returned after two months with increased frequency and severity headaches and new-onset numbness in her right thumb and toes. Follow-up MR brain scan revealed no appreciable interval progression in size, enhancing characteristics or localized mass effect associated with the right posterior fossa enhancing mass. However, due to progression of symptoms, the patient ultimately decided to proceed with surgical intervention.A far-right lateral approach was performed for suboccipital craniectomy and C1 laminectomy with electrophysiological monitoring of somatosensory and motor potentials of cranial nerves. The ipsilateral vertebral artery was identified and preserved. The dura was opened to expose the lateral cerebellum and then extended down to the level of C1 to expose the upper cervical spinal cord. A firm tumor outside the brainstem was encountered shortly after dissection in the cerebellopontine (CP) angle was initiated. A reduction in sensory potential response for the right arm was noted after successful removal of tumor tissue. No further manipulation was carried out in the brain stem region. The remainder of the extra-axial portion of the tumor, originating from the dura, was removed subsequently. Following the operation, the resected specimen was submitted to pathology for review.Grossly, the specimen consisted of multiple fragments of tan-pink to white partially calcified tissue measuring 2.0 × 1.7 × 0.7 cm in aggregate. Histology examination showed extensive calcifications with a reactive proliferation of spindled mesenchymal cells  ruling out a glial neoplasm, epithelial membrane antigen (EMA), and progesterone receptor (PR) ruling out meningioma, and S100 excluding neural origin. The final diagnosis was consistent with CAPNON. Though CAPNONs have rarely been reported in association with low-grade gliomas and meningiomas, the astrocytic component, in this case, was interpreted as reactive as they did not label for BRAF V600 E and there was no intra-axial mass radiologically.In the immediate postoperative course, the patient was neurologically stable with persistent right-sided facial, arm, and leg numbness. Postoperative MRI showed no evidence of residual posterior fossa mass Figure .She developed right-sided neuropathic pain a week later and was started on Lyrica and advised to start Kessler Rehab. At six-month follow-up, the patient showed residual weakness, proprioceptive deficit, and numbness of the right arm and leg. Additionally, she experienced loss of left-sided temperature sensation. Patient reported continued guided physical therapy and the reintroduction of preoperative activities.CAPNONs remain rare and mysterious entities despite an expanding body of literature characterizing their clinicopathologic features. CAPNON typically affects individuals with a median age of 47 years, although lesions have been identified in children as young as 2 years and adults as old as 83 years [CAPNON presents with ambiguous symptoms mostly related to the location where it arises. The most common presenting symptoms with cranial CAPNON include headaches, neck pain, and/or seizures ,4,11-19.When arising at the skull base, the radiographic differential associated with a CAPNON diagnosis has included chordoma, chondrosarcoma, vestibular schwannoma, and meningioma . DespiteHistopathologically, CAPNON displays distinctive histology that commonly feature: chondromyxoid regions, palisading spindle cells, fibrous stroma, calcifications, and psammoma bodies ,12,24. TSymptomatic CAPNON remain benign lesions and symptoms arise from mass effect on critical neurovascular structures. Evidence supports safe, maximal resection in symptomatic patients. These data can be extrapolated to posterior fossa CAPNON where published reports have pursued gross total or subtotal resection was performed to relive symptoms Table . Twelve CAPNON is a rare nonneoplastic lesion that can manifest across the entire CNS. The paucity of information on CAPNON coupled with its radiographically nonspecific features makes diagnosis a challenge, often leading to misdiagnoses as other types of neoplastic lesions. As such, increasing awareness of this lesion can help avoid unnecessary and harmful management.


Actinomyces is a gram-positive anaerobic bacterium that is ubiquitous in nature. It typically presents as respiratory, cervicofacial, or abdominopelvic abscesses. We present a 66-year-old man with a progressive enlarging abdominal wall nodule concerning for malignancy. The patient had a negative workup, including an ultrasound-guided fine-needle aspiration and colonoscopy, with biopsy for a possible extension to the colonic wall. Diagnosis of an Actinomyces abscess was obtained through surgical resection with right hemicolectomy. He was successfully treated with a prolonged course of intravenous antibiotics. This is a rare case of an isolated abdominal wall Actinomyces abscess mimicking a gastrointestinal malignancy. Actinomyces species are commensal in the human oral, skin, gut, and vaginal flora.1 Approximately 20% of actinomycosis affects the abdomen. Although it can occur anywhere in the GI tract, the most common site is the proximal colon, particularly the appendix and ileocecal valve.3 It often forms a granulomatous nodule with sinus tracts but can also form cystic masses in the colon. Despite the presence of sinus tracts, these are rarely identified and extension to the abdominal wall is atypical.2 An isolated abdominal wall mass, as was seen in our patient, is an exceedingly unusual presentation of actinomycosis. This case report seeks to illustrate this unique manifestation of an uncommon infection.Most The patient is a 66-year-old man with a history of celiac sprue who presented to the gastroenterology clinic to evaluate a new abdominal wall nodule. The patient was otherwise asymptomatic. Abdominal and pelvic computed tomography showed an ill-defined, round density mass measuring approximately 2.5 cm in greatest diameter, just to the right of midline, with surrounding fat stranding Figure . This waSurveillance imaging performed 6 months later showed that the mass had doubled in size Figure . The masOwing to the lesion's proximity to the colon and concern for underlying malignancy or inflammatory bowel disease, the patient underwent a diagnostic colonoscopy. This showed scarred, erythematous, and nodular mucosa in the transverse colon Figure . An IndiGiven the nondiagnostic results of these studies, the patient went for surgical resection of the right upper abdominal wall mass en bloc with right hemicolectomy to resect the affected mid and proximal transverse colon. Surgical pathology of the abdominal wall mass revealed actinomycosis with abscess formation but was negative for dysplasia or malignancy. The colon pathology was negative except for mild histiocytic and neutrophilic infiltration. The patient completed a 6-week course of IV penicillin. On the 1-year follow-up, the patient was doing well, with no evidence of recurrence and healthy ileocolonic anastomosis on follow-up diagnostic colonoscopy.4 Our patient had a nontender abdominal wall nodule and was otherwise asymptomatic. Owing to its occasional mass-like formation and size progression, as was seen in our patient, abdominal actinomycosis can be easily mistaken for a malignant process.5Abdominal actinomycosis can present with a wide variety of nonspecific symptoms , but it most frequently presents with abdominal tenderness.5 For this reason, FNA is considered the gold standard for diagnosis. A diagnostic aspiration would classically display filamentous bacteria with sulfur granules and a positive periodic acid-Schiff reaction. Of note, FNAs frequently have false-negative results.Computed tomography is often the first diagnostic approach in abdominal actinomycosis because it may help to characterize the size and extent of disease; however, it is unlikely to differentiate other diagnoses, such as Crohn's disease, abdominal tuberculosis, or malignancy.6 In our patient, erythematous, nodular, and scarred mucosa was visualized and biopsied in the transverse colon. Other case reports demonstrate findings of colonic masses. Even in the case of significant mucosal abnormalities, biopsy results are often nonspecific, showing chronic inflammation.7Concerns for underlying malignancy frequently prompt endoscopic evaluation.4 The diagnosis is made preoperatively in only 17%–20% of cases. Given its great response to antibiotics, it has been suggested that surgery is reserved only in cases where a diagnosis has not yet been revealed.8 Based on literature review, there are only 29 cases of anterior abdominal wall actinomycosis reported as of 2012.9Many cases of abdominal actinomycosis will require a surgical approach for definitive diagnosis.3 Studies have shown much lower susceptibility to metronidazole and fluoroquinolones.10 It is important to remember the polymicrobial nature of many Actinomyces infections. It is often found in conjunction with more resistant organisms, and this can complicate treatment regimens.The actinomycetes are almost uniformly susceptible to β-lactam antibiotics. It is recommended to treat with intravenous penicillin G for 4–6 weeks, followed by oral penicillin V for up to a year.8 When a diagnosis is finally achieved, treatment is usually complete, and the prognosis is excellent. Our case highlights a rare presentation of abdominal actinomycosis.Abdominal actinomycosis should always be considered in the differential diagnosis for an abdominal wall mass if the initial workup is negative. A higher level of suspicion is especially warranted in those with chronic illness and immunocompromised states, such as in our older patient with celiac sprue. Earlier consideration of this diagnosis paired with improved diagnostic tests can reduce the need for surgery.Author contributions: All authors contributed equally to this article. J. Ray is the article guarantor.Financial disclosure: None to report.Informed consent was obtained for this case report.


Optic pathway gliomas (OPGs) are a classic pathology seen in patients with neurofibromatosis I (NF-1); however, they are frequently seen as sporadic masses in patients with mutations activating the mitogen-activated protein kinase (MAPK) pathway. These sporadic tumors present rapidly with vision deficits, compared to those in neurofibromatosis I, which may be found incidentally. They can involve multiple aspects of the optic pathway and have classic imaging findings that make definitive diagnosis possible with magnetic resonance imaging. This case highlights a six-month-old boy who had an acute history of nystagmus and severe milestone regression, who was diagnosed with bilateral optic pathway gliomas. This case describes the associated imaging findings in addition to a discussion of management and overall prognosis of sporadic compared to NF-1-associated optic pathway gliomas. The presentation of symptoms is classically vision loss, with field defects dependent on the location and size of the tumor. These tumors usually involve the optic chiasm with further extension to the hypothalamus, thalamus, or third ventricle, with only 25% involving the optic nerve alone [Optic pathway gliomas (OPGs) are a low-grade malignancy of the optic nerve and associated tracts. These tumors compose 3-5% of all pediatric CNS tumors with 71% identified in the first decade of life [Classically, optic pathway gliomas are associated with neurofibromatosis I (NF-1). The incidence of NF-1 in patients with OPGs ranges widely from 10% to 70% across cross-sectional studies, with a mean incidence of 29% . When NFA six-month-old Caucasian male with no significant past medical history presented to the pediatric emergency department for a chief complaint of frequent unusual eye movements as reported by the parents. The patient began having intermittent rotary nystagmus approximately three weeks ago, and since then it progressed and became more continuous, worsened by changes in position or flashing lights from toys brought in his visual field. The parents also noticed the patient sleeping more than usual, only staying awake for an hour at a time, and had a subsequent severe regression in milestones, with an inability to roll over or sit unsupported.Initial workup in the emergency department included a CT brain without contrast, which showed evidence of thickening of the bilateral optic nerves with associated masses and diffuse bilateral ventriculomegaly Figure . This fiMRI of the brain and orbits confirmed these findings, showing diffuse enlargement of the optic tracts extending from the lateral geniculate nuclei to the optic chiasm and into the bilateral optic nerves, with a mass demonstrating 270º encasement of the bilateral supraclinoid internal carotid arteries and near circumferential encasement of the bilateral A1 segments of the anterior cerebral arteries Figures .These imaging findings confirmed the suspicion of bilateral optic pathway glioma, and as a result, the patient was admitted to the hospital and evaluated by both neurosurgery and pediatric hematology-oncology. Neurosurgery did not recommend any surgical intervention at the time, and the hematology-oncology team recommended proceeding with chemotherapy. His genetic testing results showed no evidence of clinically significant variants of neurofibromatosis I or II, suggesting a sporadic bilateral optic pathway glioma. The patient was then discharged and was followed up on an outpatient basis by both ophthalmology and pediatric hematology-oncology for maintenance chemotherapy with carboplatin and vincristine.Sporadic optic pathway gliomas arise from astrocyte proliferation in the optic pathway, oftentimes from a mutation in the BRAF-kinase pathway. As a result of this proliferation, a phenomenon known as arachnoidal hyperplasia occurs, with astrocytes extending through the layers of the optic tract into the subarachnoid space leading to meningeal cell and ultimately tumor cell proliferation . These tThe typical constellation of symptoms seen in children with sporadic optic pathway gliomas usually includes loss of vision, proptosis, nystagmus, hormonal deficits from hypothalamic involvement, and hydrocephalus. These sporadic OPGs display vision loss in up to 75% of cases . They inImaging with MRI and CT provide the best non-invasive method for definitive diagnosis of OPGs. Prior to the advances in imaging, biopsies were routinely performed on these tumors, but this procedure was invasive, and the histopathologic samples rarely informed specific treatment for these tumors. On CT, there is a typical finding of diffuse enlargement of the optic nerves, appearing isodense, and rarely demonstrating calcification within the nerve. Fine details of the spread of the glioma are hard to appreciate on CT though, so it is recommended to perform an MRI with and without contrast of the brain and orbits. In T1-imaging, the glioma appears isointense relative to the optic nerve, and there is a clear appearance of the outline and size of the mass. In T2-imaging, the mass appears hyperintense giving a better indication of surrounding invasion .OPGs can be found at different anatomic locations along the optic pathway, and these have varying appearances on imaging. NF-1 tumors frequently involve the optic nerve, with a circumferential enlargement of the nerve with elongation and kinking. Alternatively, in sporadic tumors, there may be a mass in the optic chiasm. Some are large enhancing masses with exophytic components, while others will appear as a non-enhancing chiasmatic enlargement. Cystic areas are seen frequently in sporadic tumors, while this is a very uncommon finding in NF-1. They may also extend beyond the regions of the optic pathway, most frequently to the hypothalamus. These tumors are commonly classified using the Dodge Classification System first proposed by Dodge et al. in 1958, dividing the tumors by anatomical location :Stage 1: Optic nerves only.Stage 2: Chiasm involved.Stage 3: Hypothalamic involvement and/or adjacent structures. Thus continuous ophthalmological follow-up and MRI surveillance remain important in these patients to monitor for progression.Management of patients diagnosed with OPGs initially involves deciding between observation compared to intervention with surgery, radiation, or chemotherapy. Observation is only considered due to the recognized phenomena of spontaneous regression of OPGs in NF-1-associated tumors. Generally, intervention is recommended if there are any visual or neurological symptoms. Prior to the advent of modern imaging, debulking surgery was frequently performed, but these aggressive interventions have since been reconsidered due to the risk of damage to parenchymal and vascular structures near the optic tracts. Radiotherapy has also been used for the management of these tumors, but despite advances in three-dimensional (3D) mapping to avoid extensive irradiation of normal tissue, due to the nearby vascular structures of the circle of Willis, there is a risk of associated vasculopathy and late neurological deficits. Given these long-term effects, chemotherapy has been established as the mainstay of treatment, using combination therapy with carboplatin and vincristine or the thioguanine, procarbazine, lomustine, and vincristine regimen . OverallWe highlight a unique case of a young patient who presented with nystagmus and regression of milestones, who was found to have a stage 3 optic pathway glioma as confirmed by MRI of the brain. This case emphasizes the differences seen between sporadic optic pathway gliomas compared to those associated with neurofibromatosis I. The diagnosis can be made definitively via MRI, avoiding an invasive and potentially dangerous surgical biopsy. These patients can be further managed with chemotherapy and consistent evaluation with a multidisciplinary team of ophthalmologists, neurologists, and pediatric hematologist-oncologists, in addition to consistent MRI surveillance if there is evidence of neurological or vision change.


Disorders of sex development are anomalies in which the development of urogenital ridge is undifferentiated for the male and female child. Imaging plays a vital role in investigating the gross anatomy and associated anomalies. Ultrasonography, such as genitography and magnetic resonance, is the primary modality for demonstrating internal gonads and genitalia. Early multidisciplinary approach in the management of ambiguous genitalia including early surgical intervention is the predominant practice, with few current considerations on deferral of genital reconstruction until adolescent age.We report the rare case of a 24-year-old adult female from a majority ethnic group of the Volta region, Ghana who was diagnosed and raised as male, now requiring surgical restoration to the female gender. The surgical team decided to assign external genitalia to correspond with the already intact internal organs, thus constructing the vulva. Consent was given by the client and her family members for management and surgical intervention. The surgery was scheduled and duly performed with a successful outcome. Understanding and consent was sought from the patient for the purpose of using her images for teaching, scientific publication, and demonstrations.The advantages of deferring surgical reconstruction with psychological counseling after early assessment need to be considered to prevent inappropriate gender assignment. The term ambiguous genitalia describes the most common clinical presentation of a variety of congenital conditions classified as disorders of sexual development (DSD) or differences in sex development , 2. DSDsDisorders of sex development are a major pediatric issue, accounting for approximately 1% of all live births . HoweverClinical management of DSDs is carried out per the classification proposed by the Paediatric Endocrinology Society Lawson Wilkins and the European Society of Paediatric Endocrinology . The manGenetic tools such as microarray analyses and next-generation sequencing techniques have identified novel genetic variants among patients with DSD. Most importantly, patient management needs to be individualized especially for decisions related to the sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation . In counA 24-year-old from a majority ethnicity of Volta region Ghana was referred on account of 7 years cyclical total painless hematuria, which lasted about 2–3 days per episode for the past 3 years. This was often preceded by mild lower abdominal pain and malaise. There was no identifiable risk factor for bladder carcinoma (habits or exposure). The patient is the eldest of five siblings, who are all alive and had normal pregnancy and delivery periods. The mother was on the routine antenatal medications as always prescribed in Ghana. Two of her siblings also had a similar genital appearance and were undergoing medical examinations. She was christened and raised as a male from infancy to adolescence when she noticed the development of female secondary sexual characteristics . She stopped her education and migrated to the city where she has been residing since then. Physical examination reveals feminine figure appearance, well-developed breast, female hair distribution pattern, and a feminine voice. She had a mega clitoris without vaginal opening Fig. , and theThe management of the DSD in this case was focused on first ascertaining the etiological diagnosis. This was done by performing an abdominopelvic ultrasound scan, which showed normal uterus and ovaries. Urethrocystoscopy demonstrated a normal bladder mucosa, ureteric orifices, and a poorly visualized dimple in the urethral mucosa distal to the sphincter. A diagnosis of 46, XX DSD secondary to androgen excess was made Table . Since aThe formation of a typical male or female sex organ involves numerous and complex genetic and physiological events such as sex determination during fertilization, development at the gonadal ridge, expression of the mesonephric or paramesonephric ducts, differentiation into internal and external organs during the zygotic phase, growth of these reproductive organs to phenotypic recognition, and masculinization or feminization from birth to puberty under the influence of hormones and transcription factors , 11.Managing an adult with ambiguous external genitalia requiring surgical intervention is extremely rare as patients with various spectra of the disease requiring surgical intervention most probably would have received it during childhood or adolescence , 13. TheIt confirms the difficulty associated with early biological sex determination among ambiguous genitalia neonates.It lays out the social consequences of raising a child with a wrong gender, including predisposition to bullying and mockery by peers, withdrawal from school, need for relocation, and change of name and dressing style when the secondary sex organs become prominent.It emphasizes the heightened anxiety of the patient and relatives over the delay in correction and the need for prolonging psychological counseling if a delay is contemplated.There is an advantage to conducting a limited investigation  since secondary sexual features have already developed and directed the biological gender, especially in hospitals with limited diagnostic abilities.It demonstrates the relative ease of surgical intervention as a result of well-developed structures at the perineal area for dissection and raising of flaps during vaginoplasty and neoclitoroplasty.It shows reduced postoperative complications in terms of infections and reconstructive breakdown.It resulted in good functional outcome and patient satisfaction.Advocates for deferral of surgical intervention raise concern that the influence of high maternal estrogen levels that causes clitoromegaly could be mistaken for male phallus, leading to wrong gender assignment. Continuous psychological counseling while delaying vaginoplasty is currently considered. This approach is believed to allow for tissue growth that will make surgery relatively easy. Full patient participation in the evaluation and treatment, as in this case under review, is critical. The optimal timing of the surgery remains unclear. This case report has taught us many lessons associated with the timing of DSD management, including:The advantages of deferring surgical reconstruction with psychological counseling after early assessment need to be considered to prevent inappropriate gender assignment.