Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic

Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral glaucoma (buphthalmos), ipsilateral facial hemihypertrophy, and eyelid plexiform neurofibroma: completing the triad of François syndrome, a rare NF1 variant. Two presented with leukocoria and were referred to as retinoblastoma suspects. Histopathology showed ganglioneuroma, a benign choroidal tumor, associated with NF-1, which does not need treatment. Knowledge of this rare condition avoids misdiagnosis of retinoblastoma, prevents aggressive management, and the associated psychological impact.

Giant adrenal myelolipoma.

Adrenal myelolipoma is a rare benign tumor composed of adipose and hematopoietic tissue. Most tumors are small in size and incidentally detected. We report a case of giant adrenal myelolipoma weighing 2200 gms which was diagnosed on radiology as a liposarcoma. This case is unusual in view of the large size and presence of bony spicules. To the best of our knowledge, not more than 10 giant adrenal myelolipoma cases have been reported in literature.

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.

The renal pathology in children dying with hepatic cirrhosis.

The aim of this analysis was to observe the pathologic changes in the kidney in 23 children dying of cirrhosis, including five children with renal failure. Besides these pathologic changes, glomerular cellularity and arteriolar wall thickness of these patients were compared with 18 age matched autopsy controls dying of nonhepatic and nonrenal causes. Histologic examination of the kidneys in these cirrhotic children showed significant tubular changes in five patients, diffuse glomerulosclerosis in five, only one child had membranous glomerulopathy or glomerulonephritis and one cirrhotic with serum hepatitis B surface antigen positivity had polyarteritis nodosa. No statistically significant changes were observed in the glomerular cellularity and the arteriolar wall thickness in these cirrhotic children as compared to the controls. However, medial proliferation and hyaline arteriolosclerosis were observed in four cirrhotic children. Tubular bile casts and nephrocalcinosis were the sole lesions causing renal failure in two cases. A combination of glomerulosclerosis, cast formation and arteriolosclerosis was seen in the remaining three patients. Thus the kidney showed a spectrum of pathology in pediatric cirrhosis. The tubular lesions causing renal failure represent acute treatable lesions whereas glomerulosclerosis and arteriosclerosis stand for a more chronic and less reversible renal damage.