Juvenile Granulosa Cell Tumour of the Ovary with Unilocular Pure Cystic Presentation: A Case Report and Review of Literature.

BACKGROUND: Granulosa cell tumours of the ovary are rare, hormonally active, oestrogen-secreting tumours of the ovary existing in two forms: the adult form and the even rarer juvenile form. These tumours present as predominantly solid lesions while the cystic, unilocular presentation is uncommon. CASE REPORT: We present an 18-year-old unmarried girl who presented with complaints of chronic pain, abdominal distension and presence of facial hair. Radiological examination revealed a large, purely cystic, unilocular lesion without any solid components, debris or septations. Histopathological diagnosis was of a juvenile granulosa cell tumour. CONCLUSIONS: Radiological criteria suggestive of malignant ovarian masses include thick, irregular walls and septae; papillary projections and solid, echogenic foci. Nonetheless, we propose that a malignant ovarian lesion should be included in the differential diagnosis of a unilocular, purely cystic ovarian lesion.

Fatal Toxic Megacolon in a Child of Hirschsprung Disease.

Hirschsprung disease (HD) in late childhood is uncommon and often undiagnosed or misdiagnosed. However, in a patient with Hirschsprung disease, of greater significance is the occurrence of life threatening enterocolitis. In its more severe form, this is associated with gross dilatation of the colon and profound toxaemia, the combination being termed toxic megacolon. Because of its relative rarity, we report a case of 10-year-old child who had a history of chronic constipation for nine years. He later developed complications and presented to the emergency department with toxic megacolon, a rare occurrence due to neglected constipation. Though patient's condition was unstable, laparotomy with right transverse colostomy was performed after appropriate intravenous rehydration. The dilated bowel loops were decompressed and intraoperatively multiple site biopsies were done. Histopathological examination of transition zone biopsy revealed absence of ganglion cells suggestive of Hirschsprung disease. But few hours later patient's condition worsened and he succumbed.

Isolated primary orbital hydatid disease presenting as multiple cystic lesions: a rare cause of proptosis.

Echinococcal infection is a consequence of accidental ingestion of tapeworm eggs by humans. Liver scrutinises the initial haematogenous spread of portal blood and thus it is the most common organ involved. Isolated, primary involvement of other organs is a rarity. We describe a case of isolated orbital hydatid disease. To further add to the uniqueness of our case, two hydatid cysts were seen in our patient. The patient presented with unilateral proptosis with vision loss of the left eye since 6 months. Radiological imaging revealed two intraconal cystic lesions in the left eye. The chest radiography, abdominal sonogram and serology were negative for echinococcal disease. Surgical removal of the cysts was performed via lateral oribitotomy approach. Definitive diagnosis of Echinococcus was established on histopathology. The patient received post-operative albendazole therapy for 12 weeks. At 10 months' follow-up there was no recurrence or evidence of hydatid disease elsewhere.

OVOTESTICULAR DISORDER OF SEX DEVELOPMENT: A SINGLE-CENTER EXPERIENCE.

OBJECTIVE: Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findings and outcomes of patients with OT DSD from Western India. METHODS: The records of patients referred to our center for disorders of sex development between 2005 and 2013 were reviewed, and 7 patients were found to have histologically proven OT DSD. RESULTS: The median age at presentation was 8 years (range, 2 months to 25 years). Clinical presentation varied from genital ambiguity and inguinal swelling at birth to gynecomastia and cyclical hematuria after puberty. Karyotype was 46, XX in 6 patients and 46, XY in 1 patient. All patients underwent pelvic ultrasonography, laparoscopy, and surgery for removal of gonads not congruous with the chosen sex of rearing. Gender assignment for all the patients was done by the parents at birth, which was mainly influenced by the external genitalia and sociocultural influences, with 5 out of the 7 patients being reared as males. There was no evidence of gonadal tumors in our study. CONCLUSION: OT DSD should be considered as one of the differential diagnoses in cases of ambiguous genitalia with nonpalpable or asymmetrical gonads, pubertal gynecomastia, and cyclical hematuria, irrespective of the karyotype or internal genitalia.

Bilateral Epstein-Barr virus-associated adrenal leiomyomas in a child without an established immunodeficiency.

Adrenal leiomyomas are rare, bilateral ones being rarer. Literature available on these rare tumors documents only 4 cases in children less than 12 years of age. Each case has been associated with acquired immune deficiency syndrome or some other immunodeficiency state. Here we present a rare case of large, bilateral, adrenal leiomyomas in a child with no known immunodeficiency. An 11-year-old girl with a past history of herpes zoster (1 year before the present complaints) was admitted with abdominal pain of 2 months' duration. Radiology revealed bilateral adrenal neoplasms, probably bilateral pheochromocytoma. Histology showed bilateral adrenal leiomyomas that were Epstein-Barr virus associated. We report this case to draw attention to the occurrence of a common pathologic entity at an uncommon site in a setting of no definite known immunodeficiency.

Key cytological findings in FNA from infantile digital fibromatosis.

BACKGROUND: Infantile digital fibromatosis (IDF) or inclusion body fibromatosis is a benign proliferation of fibroblastic and myofibroblastic cells. Its most common site is the digits of young children and it is named for the intracytoplasmic inclusions that are detected in lesional cells. CASE: A two and a half-year-old male child presented with a single flesh-colored nodule on the dorsal aspect of his right little toe since the sixth month of life. FNAC from the lesion showed characteristic cytomorphological features of IDF. CONCLUSION: IDF is a rare lesion occurring in children or infants. There are many case reports describing histopathological features of IDF. To our knowledge, the typical inclusion bodies as cytomorphological findings in IDF have not been described in the literature. This is a rare case diagnosed on cytology and confirmed on histopathology.

Primary hyperparathyroidism: a clinicopathological experience.

BACKGROUND: Parathyroid neoplasms form a small percentage of head and neck neoplasms. Primary hyperparathyroidism is caused by parathyroid adenomas, hyperplasia or, rarely, a carcinoma. MATERIALS AND METHODS: This is a retrospective study of 48 parathyroidectomies received in the Department of Pathology of a major teaching hospital over a period of 10 years. Clinical, biochemical and radiological details were retrieved from medical records. Information regarding routine gross and microscopic examination findings (including frozen section and paraffin sections) was retrieved from departmental records. RESULTS: We had 43 adenomas, three hyperplasias and two carcinomas. The most common age group was 21-30 years. The female:male ratio was 2.5:1. Most patients presented with skeletal manifestations. The pre-operative diagnosis was assisted by ultrasonography in 11 cases, computerized tomography of the neck in 10 cases and sestamibi scans in three cases. Intra-operative parathormone monitoring was performed in one case of adenoma. Frozen section was requested in 28 of 48 cases. There was a discrepancy between frozen section diagnosis and paraffin section diagnosis in two cases. CONCLUSION: Histopathologic diagnosis is an important guide to decide the type of surgical management. Although pathologic features of parathyroid carcinoma are diagnostically reliable, those of the more commonly encountered lesions of adenoma and hyperplasia may be overlapping and, therefore, indistinctive, more so if only a single gland is available for examination. Because parathyroid lesions are only occasionally encountered by the surgical pathologist, awareness of the spectrum of histologic features along with knowledge of recent trends in diagnosis and surgical management are important.

Isolated pericardial and intracardiac hydatidosis: presentation as congestive cardiac failure and fatal pulmonary embolism.

Localization of hydatid cysts in the heart is a rare phenomenon, with an incidence of 0.5-2%. In almost half these cases, the heart is the sole organ to be involved. We report a case of massive pericardial hydatidosis in a female patient who presented with features of congestive cardiac failure. Cysts in the endocardium of right side of the heart resulted in fatal pulmonary embolism.

Atresia of the common pulmonary vein--a rare congenital anomaly.

OBJECTIVES: Early atresia of the common pulmonary vein (ACPV) leads to total anomalous pulmonary venous drainage, while late atresia or incomplete absorption leads to common pulmonary vein atresia and cor triatriatum sinister (both of which are rare). We report seven cases of atresia of the common pulmonary vein at autopsy. DESIGN: Retrospective case records studied. SETTING: Tertiary care teaching hospital affiliated to medical college in Mumbai, India. PATIENTS AND METHODS: The clinical and autopsy records of neonates and infants diagnosed with ACPV over a period of 11 years were reviewed. The demographic data, clinical features, and results of investigations were correlated with the cardiac findings at necropsy. RESULTS: Seven neonates and infants (five males and two females) had ACPV. Six babies presented at birth and expired within 48 hours. They had a homogeneous group of symptoms of cyanosis since birth with respiratory distress and/or features of congestive cardiac failure. One had perimembranous ventricular septal defect with bicuspid pulmonary valve and atresia of aortic valve. Two had dysmorphic facial features suggestive of Down's syndrome. Isolated ACPV was seen in only two patients. Asplenia syndrome was seen in three patients. Marked dilatation of the pulmonary lymphatics was identified in three patients. CONCLUSIONS: Early atresia of the common pulmonary vein, an extremely rare abnormality, manifests in early infancy/neonatal period and needs urgent corrective surgery. It is associated with other congenital heart disorders and extracardiac manifestations as well.

Unusual rib tumor: parosteal lipoma with extensive osteochondromatous metaplasia.

Lipomas of the bone usually occur in the long bones and are seen in the fifth to seventh decade of life. Rib lipomas are rare and those having parosteal location are even rarer. We report a case of parosteal lipoma of the rib in a young male with some unique features. This is the fifth case of its kind to be reported in literature.

Cardiac valvular inflammatory pseudotumor.

Inflammatory pseudotumors are quasineoplastic lesions that occur in the lungs as well as other extrapulmonary sites. The heart is an uncommon site of origin. We report a valvular pseudotumor that produced chronic mitral and aortic regurgitation in an elderly woman.

Ileal polyposis as manifestation of neurofibromatosis syndrome.

A 13-year-old girl presented with features of intestinal obstruction. At surgery, the terminal 25 cm of ileum, which was resected along with the right colon, showed plexiform neurofibromatosis of the serosa and mesentery, hyperplastic submucosal and myenteric nerve plexuses and proliferation of neural tissue in the lamina propria, which manifested as diffuse polyposis of the ileal mucosa. The patient had a single inconspicuous external neurofibroma and a few café-au-lait spots on the back.