An unusual case of Takayasu arteritis presenting as isolated severe aortic regurgitation: A case report.

INTRODUCTION: Takayasu arteritis is a chronic granulomatous vasculitis involving the large vessels, mainly the aorta and its branches. CASE PRESENTATION: We report a case of a young female who presented with severe shortness of breath and easy fatigability. Examination revealed a diastolic murmur and imaging studies revealed a severe aortic regurgitation with aneurysm of the aortic root and ascending aorta. CLINICAL DISCUSSION: Modified Bentall's procedure was performed and sample sent for histopathology which showed granulomatous inflammation of the aorta with elastic fibre destruction in the medial layer. Infective causes of aortic aneurysm were ruled out and a diagnosis of Takayasu arteritis was made on the basis of clinical, radiological and histological findings. CONCLUSION: This case highlights the unusual presentation of Takayasu arteritis in which the patient had severe aortic regurgitation and aneurysm of the ascending aorta without steno-occlusive lesion elsewhere.

Porokeratosis of gluteal region: A case report.

Genitogluteal porokeratosis is a rare localized disorder of keratinization. Due to the rarity of the case and non-specific keratotic lesion, it is often misdiagnosed until a histological examination is performed. Treatment of this condition can be challenging, which comprises various topical and systemic drugs, lasers, cryotherapy, phototherapy, and also surgical intervention. Regular follow-up is necessary in the view of this disorder being a premalignant condition.

Giant ovarian mucinous cystadenocarcinoma: A case report.

Giant ovarian tumors are rare in the present day due to the early diagnosis and treatment. However, owing to the large size, it can often compress the inferior vena cava and sudden decompression of it during the removal can lead to hemodynamic instability with disastrous outcomes.

Pure Sertoli cell tumor of the ovary: A case report.

Pure Sertoli cell tumors are an uncommon variant of rare ovarian Sertoli-Leydig cell tumors. Due to nonspecific clinical and imaging features, diagnosis is often made after histopathological examination. The prognosis is excellent as most are detected in the early stages and surgical resection is often curative in most cases.

Essential Thrombocythemia among Patients with Myeloproliferative Neoplasms in Haematology Unit of a Tertiary Care Centre: A Descriptive Cross-sectional Study.

Introduction: Essential thrombocythemia, a myeloproliferative condition with an increased number of circulating platelets, is a rare hematological malignancy. The aim of the study is to find out the prevalence of essential thrombocythemia among patients with myeloproliferative neoplasms presenting in haematology unit of a tertiary care centre. Methods: This was a descriptive cross-sectional study at a tertiary care centre from September, 2020 to September, 2021 (Reference number: 48 (6-11) E2077/076). All the patients with a diagnosis of essential thrombocythemia and willing to give consent were included in the study while the patients with incomplete investigations were excluded. A sample size of 72 patients was taken and convenience sampling was done. Data were entered in Microsoft Excel 2010 and analysis was done by the Statistical Package for the Social Sciences Version 22.0. Point estimate at 95% Confidence Interval was calculated along with frequency and proportion for binary data along with mean and standard deviation for continuous data. Results: Among 72 patients with myeloproliferative neoplasms, the prevalence of essential thrombocythemia was found to be 17 (23.61%) (13.80-33.42 at a 95% Confidence Interval). The mean age of patients was 55.41±11.20 years with a male to female ratio of 9:8. The mean hemoglobin level and platelet count in patients were found to be 11.20±2.1 g/dl and 677000±262067.70 cells/mm3. Twelve (70.58%) of total patients were under low risk of essential thrombocythemia while 3 (17.64%) of them were at high risk. Conclusions: The prevalence of essential thrombocythemia was similar to other studies done in similar settings. Keywords: essential thrombocythemia; hematology; mutation.

Visceral leishmaniasis in non-endemic rural hilly region of Nepal: A case report.

Visceral leishmaniasis is the most severe form of leishmaniasis, caused by the obligate intracellular protozoan parasites Leishmania donovani or L. infantum, transmitted by the bite of phlebotomine sand fly. Visceral leishmaniasis is a disease of lowlands and uncommon in highlands. We report a case of visceral leishmaniasis in 13-year-old female patient from a village of Arghakhanchi situated at an altitude of 1200 m.

Sinonasal mucosal melanoma presenting as a maxillary sinus mass: A case report.

Maxillary sinus melanoma is a rare mucosal melanoma difficult to diagnose in the absence of pigmentation. Intranasal masses presenting with the features of occult malignancy and rapid progression should always be investigated in the line of melanoma irrespective of pigmentation. The histopathological and immunohistochemical examination helps to confirm the diagnosis.

Barraquer-Simons syndrome in systemic lupus erythematosus: A case report.

Barraquer-Simons syndrome is a rare entity characterized by progressive loss of subcutaneous tissue in the face and/or upper half of the body and can be associated with autoimmune conditions such as systemic lupus erythematosus. Close long-term follow-up is required to identify metabolic disturbances, potentially life-threatening renal problems, and other associated diseases.

Extra-adrenal paraganglioma of a urinary bladder in an adolescent male: A rare case report.

INTRODUCTION AND IMPORTANCE: Paraganglioma of the urinary bladder is unusual and reported rarely. The patient usually presents with the complaint of hematuria and fluctuating blood pressure. CASE PRESENTATION: We discuss the case of a 21-year old male, who had been experiencing gross hematuria, was found to have a mass on ultrasonography. Further evaluation with contrast-enhanced computerized tomography (CECT) revealed an irregular soft tissue density of endophytic mass arising from the left posterior wall of the urinary bladder. The histopathological examination of the excised mass was suggestive of a tumor of neural origin, which was further confirmed as paraganglioma by immunohistochemistry. CLINICAL DISCUSSION: Imaging prior to the surgery must be done for a provisional diagnosis of paraganglioma to avoid fluctuating blood pressure during elective surgery. On histopathological examination tumor cells are arranged in the nest like fashion forming a specific 'Zellballen' pattern. Positive staining for synaptophysin and chromogranin in immunohistochemistry confirms the diagnosis. CONCLUSION: It is difficult to diagnose paraganglioma of the urinary bladder with the aid of imaging only, particularly if the patient presents without specific symptoms of fluctuating blood pressure. So, a multidisciplinary approach is essential for the diagnosis and proper therapy of this entity. However, prompt surgical resection is the mainstay of treatment.

A rare case of myxoid pleomorphic liposarcoma in an infant: A report.

INTRODUCTION AND IMPORTANCE: MPL (myxoid pleomorphic liposarcoma) is an uncommon type of liposarcoma that affects mostly children and infants. Its aggressive behavior and tendency to recur warrant complete excision despite the challenges of troublesome locations. CASE PRESENTATION: A 12-month-old infant presented with an insidious onset of noisy breathing and respiratory distress not relieved by supplemental oxygen via face mask. Examination revealed dullness and decreased air entry on the left chest. Computed Tomographic (CT) scan showed a large solid mass occupying the left hemithorax and displacing the mediastinum to the right. Intraoperatively, a large solid mass arising from the left chest wall and attached to the fifth rib was seen. Histopathology of the resected mass showed myxoid pleomorphic liposarcoma which is non-reactive for MDM2 immunostain. CLINICAL DISCUSSION: Unlike other liposarcomas, myxoid pleomorphic liposarcoma occurs in children, commonly in the chest. CT scan is the preferred imaging modality. Treatment is by complete excision where possible. Molecular studies like Fluorescent in-situ Hybridization (FISH) and Immunohistochemistry (IHC) is used for confirmation. It has a high propensity to metastasize and recurrence is expected. Chemotherapy and irradiation following complete resection decrease the disease recurrence. CONCLUSION: Soft tissue malignancy must be considered in the differential diagnosis of a large intrathoracic tumor in an infant. FISH and IHC are essential for confirmation.

Adrenal Leiomyoma: A case report.

INTRODUCTION AND IMPORTANCE: Adrenal Leiomyomas are infrequent tumors with only a few cases reported to date. They are difficult to differentiate from malignant adrenal tumors due to non-specific findings on clinical examination and imaging studies. CASE PRESENTATION: We discuss the case of a 49-year old male who had been experiencing generalized abdominal pain for 14 months and was found to have a mass on ultrasonography. Further evaluation with Contrast-enhanced Computerized Tomography (CECT) revealed an uneven soft tissue density mass in the retroperitoneal region of the left side. The histopathological examination of the excised mass was suggestive of a mesenchymal tumor, which was further confirmed as leiomyoma by immunohistochemistry. CLINICAL DISCUSSION: Adrenal Leiomyomas are rare smooth muscle tumors that present with heterogeneously enhancing mass on radiologic imaging. On histopathological examination, spindle cells arranged in lobules and fascicles can be appreciated. Positive staining for desmin and smooth muscle actin in immunohistochemistry confirms the diagnosis. CONCLUSION: Identification of the type of tumor in any adrenal mass is challenging pertaining to the non-specific findings on imaging studies. So, prompt surgical resection is the mainstay of the treatment.

Symptomatic familial adenomatous polyposis in an adolescent: A case report.

INTRODUCTION: Familial adenomatous polyposis (FAP) is an inherited colorectal cancer syndrome characterized by several adenomatous polyps of the gastrointestinal mucosa with a universal risk of colorectal cancer in a lifetime. FAP is usually asymptomatic in the first decade of life. CASE PRESENTATION: We report a case of a 13-year-old girl diagnosed with FAP who presented in our center with symptoms of hematochezia along with a positive history of the untimely demise of her father and elder sister with similar symptoms. DISCUSSION: FAP is an autosomal dominant disease affecting both male and female equally with variable penetrance. Diagnosis is made by finding hundreds to thousands of adenomatous polyps in the colon and rectum, and molecular analysis of the APC gene which forms the definitive diagnosis. Prophylactic laparoscopic total proctocolectomy with ileorectal anastomosis is a safe and feasible surgical option with a low risk of complications among adolescents. An endoscopic/colonoscopic procedure is recommended every 6 to 12 months after surgery to assess the anastomosis site, pouch, and residual rectum. CONCLUSION: FAP, a rare disease entity in adolescents should be managed by appropriate diagnostic procedures, early prophylactic surgery, and regular lifelong follow-up.

Cecal gastrointestinal stromal tumor causing ileocolic intussusception in an adult: A rare case report.

INTRODUCTION AND IMPORTANCE: Cecal gastrointestinal stromal tumors (GIST) constitute a rarer subtype of all GISTs. Rarely, it can present with ileocolic intussusception in adults making it a challenging diagnosis due to non-specific clinical features. CASE PRESENTATION: A 30-year previously healthy woman presented with lower abdominal pain and a distended abdomen who was subsequently diagnosed with ileocolic intussusception on a CT scan. Intraoperatively, a pedunculated polypoid hard mass was identified in the cecum and thus, a standard right hemicolectomy was performed with the suspicion of malignancy. Histopathology of the resected mass confirmed CD117 negative, spindle type GIST. DISCUSSION: Cecal GIST presenting in the form of ileocolic intussusception is rare. Contrast-enhanced CT scan is the preferred imaging modality for the evaluation of patients with suspected GIST to determine the extent of the tumor, the presence or absence of metastatic disease alongside evaluation of the possibility of complete resection. Adjuvant imatinib therapy following complete resection decreases the disease recurrence. CONCLUSION: Intussusception in an adult can be the first manifestation of underlying malignancy like GIST. Complete surgical resection of the tumor with a negative margin offers long-term survival.

Adrenal schwannoma: A case report of an unusual incidentaloma.

INTRODUCTION AND IMPORTANCE: Adrenal schwannomas are extremely rare tumors often misdiagnosed. The patients are usually asymptomatic while some present with non-specific abdominal pain. Only a few cases are reported to date. CASE PRESENTATION: We here present a case of a 55-year-old Nepalese man presented with nonspecific abdominal pain at our Outpatient Department (OPD) found to have mass on ultrasonography of abdomen. On further investigation with Contrast Enhanced Computerized Tomography (CECT) of the abdomen and pelvis, a well-defined heterogeneous adrenal mass of size (7.8 ∗ 8.3 ∗ 6) cm with foci of calcification was seen in the left retroperitoneum. The intraoperative finding of adrenal mass and histopathology of resected mass was suggestive of schwannoma arising from the adrenal gland which was further confirmed by immunohistochemistry. CLINICAL DISCUSSION: Adrenal schwannoma can mimic tumors like pheochromocytoma, adrenal adenoma, cortical carcinoma, neuroblastoma, and other masses. Only 1-3% of schwannomas are retroperitoneal. Radiological findings of this tumor are non-suggestive. The histological section shows spindle cells with Antoni A and Antoni B regions while positive staining of S-100 protein in Immunohistochemistry. CONCLUSION: The diagnosis of adrenal schwannoma in the retroperitoneum is often challenging. The treatment of choice is surgical resection with a good prognosis.

Jejunal GIST masquerading as an ovarian mass: A case report.

INTRODUCTION AND IMPORTANCE: Gastrointestinal stromal tumors (GIST) are rare mesenchymal tumors originating in the wall of the gastrointestinal tract. Jejunal GIST is the rarest subtype. Large GIST can present with an abdominopelvic mass which can be preoperatively misdiagnosed as a gynecological tumor. CASE HISTORY: A 44-year regularly menstruating woman presented with lower abdominal pain which was diagnosed as a malignant ovarian tumor preoperatively with an MRI. However, intraoperatively, a lobulated mass was present in the abdominal cavity arising from a jejunal portion of the small intestine. With an intraoperative diagnosis of jejunal GIST, the mass was excised and jejunum anastomosed. Histopathology examination report showed GIST which was further confirmed by immunohistochemistry. DISCUSSION: GIST presenting as a large abdominopelvic mass can mimic a gynecological tumor. Contrast-enhanced CT scan is the preferred imaging modality for the evaluation of patients with suspected GIST to determine the extent of the tumor, the presence or absence of metastatic disease alongside evaluation of the possibility of complete resection. Adjuvant imatinib therapy following complete excision can decrease the disease recurrence. CONCLUSION: Gynecologists should keep in mind that primary gastrointestinal tumors can present as a pelvic mass. A proper histopathological examination helps to confirm the diagnosis. Complete surgical removal of the tumor should be obtained as it determines the prognosis of the disease.

Epithelioid Gastrointestinal Stromal Tumor of Duodenum Mimicking Adenocarcinoma: A Case Report.

Gastrointestinal stromal tumor is a mesenchymal tumor of gastro-intestinal tract. This epithelioid type gastrointestinal stromal tumor seen in a 22-year-old male with epigastric pain as a presenting symptom had morphological resemblance to carcinoma. However, the immunohistochemistry profile with CD117 and DOG 1 positivity, combined with AE1/AE3 positivity confirmed the tumor as gastrointestinal stromal tumor. Approximately 95% of the patients with gastrointestinal stromal tumor show CD117 immunoreactivity. The treatment approach of CD117 positivity in gastrointestinal stromal tumor has therapeutic benefit with tyrosine kinase inhibitors. Preoperative Imatinib therapy with complete excision can decrease the disease recurrence. Histopathological examination with immunohistochemical studies help to reach the definite diagnosis.