Niemann-Pick disease (NPD) is an autosomal recessive lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. It is subdivided into acute, lethal neuronopathic type A and chronic visceral type B, explained by the different residual activity levels of the enzyme. For 5 years (2002-2007) the diagnosis NPD was proved in 5 children (4 boys and one girl of gypsy ancestry; unrelated) by clinical and laboratory findings and positive mutational analysis. All children have been with normal appearance at birth. In four of them clinical manifestation has started up to 3 years of age, in one - at 7 years, with enlargement of liver and spleen. Symptoms of hepatic injury were: fatigue (4/5), abdominal pain (3/5), oedema (2/5), hepatomegaly (5/5), severe splenomegaly (5/5), elevated aminotransferases (4/5), pancytopenia (3/5), elevated cholesterol (5/5). Cherry-red spot found in 2/5. Myelogram with foamy cells - 4/5. Specific laboratory test: decreased sphingomyelinase activity 5/5. Mutational analysis - all patients were found homozygotes for a specific mutation (W391G), typical for patients of gypsy origin.
Scripta Scientifica Medica 2009; 41(2): 153-155.
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