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Anatomo-pathological and ultrastructural features in mucopolysaccharidosis: case report

The mucopolysaccharidoses (MPS) are lysosomal storage diseases in which a specific enzyme defect causes glycosaminoglicans storage in tissues. The authors present a necropsy case of a 10 years old boy with clinical and laboratorial diagnosis of MPS. The necropsy revealed thickening of meninges, cardiac valves and hepatomegaly. The microscopical examination of the brain showed finely vacuolated histiocytes around blood vessels and meninges. Systemic deposits of vacuolated histiocytes in cardiac valves and liver were also detected. The ultrastructural examination of the brain, liver and spleen showed filamentous material accumulated in vacuolated histiocytes and hepatocytes and features neuronal storage disease.

mucopolysaccharidoses; storage diseases; neurodegenerative diseases


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