Gaucher's disease: report of 4 cases.

Review of records for last 5 years has shown 4 cases of Type I Gaucher's disease in our institute. The cases were diagnosed on bone marrow aspiration, examination of splenectomy specimen, liver biopsy and post mortem in one case. The age range was 2 years to 22 years. Male to female ratio was 3:1.Splenectomy was performed in one case and one case received enzyme replacement therapy with high dose, low frequency regimen for six months without any favorable effect. All were Hindus. Family history of similarly affected and treated twin brother was available in one case. The predominant clinical presentation was pancytopenia and splenohepatomegaly with splenomegaly greater than hepatomegaly. Remarkable constitutional inferiority was noted in one case, which succumbed to death following acute illness and bleeding diathesis. Post mortem performed showed infiltration of spleen and liver with Gaucher cells, fibrosis and myeloid metaplasia in liver and lung.

Pleural fluid analysis with traditional and additional parameters.

36 patients with pleural effusion were studied clinically with pertinent investigations and pleural fluid analysis. The pleural fluid analysis was done with routine protocol including study of traditional parameters like protein and cell count and additional parameters like pleural LDH, GOT(AST) and their ratio with serum LDH and GOT respectively. The utility of these parameters was studied critically. Amongst the isolated parameters cell count enjoyed highest (100%) specificity and positive predictive value. LDH ratio had highest (79.1%) sensitivity. Pleural LDH showed highest (52.6%) negative predictive value and diagnostic accuracy (69.4%). Amongst the combination of two parameters protein with LDH ratio had highest (87.5%) sensitivity, cell count with LDH ratio showed highest specificity (100%), positive predictive value (75%) and diagnostic accuracy (88.9%). Amongst the combination of three parameters pleural protein and cell count with LDH ratio and GOT ratio respectively enjoyed best sensitivity (87.5%), specificity and positive predictive value (100%), negative predictive value (80%) and diagnostic accuracy (90.6%). Similarly competent were the combinations offour parameters namely p rotein and cell count with LDH and its ratio and GOT and its ratio respectively. Combination of all parameters exhibited similar degree of utility.

Aortic dissection and bicuspid aortic valve: an autopsy study.

Medico-legal post-mortems referred to the Department of Pathology, for the histopathological examination, revealed six cases of acute aortic dissection--two in isolation, three in combination with congenital bicuspid aortic valve; and one isolated case of congenital bicuspid aortic valve. One case of isolated aortic dissection was associated with Marfan's syndrome; and one case of aortic dissection with bicuspid aortic valve was associated with polycystic kidneys. History of hypertension could be elicited in two cases. Cystic medial degeneration of aorta was seen in three cases; one of which was associated with Marfan's syndrome. All five cases of aortic dissection belonged to type II of DeBakey classification.

Tay Sachs disease: an autopsy case report.

This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by enzyme studies. At postmortem, there was no organomegaly. The brain, on microscopy, showed vacuolated swollen neurons.