Niemann-Pick syndrome

Lysosomal storage abnormalities, such as glycogenosis (Pompe s disease). Tay-Sachs, Krabbe s. Gaucher s, and Fabry s diseases, as well as melachromatic leukodystrophy, aspariylgiycosaminuria, and Niemann-Pick disease. Also included in this category are mucopolysaccharidoses. Hunter s, Scheie s, and Hurler s syndromes. 

The deficiency of any lysosomal enzyme results in accumulation of its substrate in lysosomes. Some of these diseases include Hurler syndrome, Hunter syndrome, I-cell disease, Niemann-Pick disease,... 

For disorders characterized by an underlying enzyme deficiency (e.g., Gaucher disease, Fabry disease, Tay-Sachs, Hurler syndrome), assays of enzyme activity in blood and/or tissues is generally available (Meikle et al., 2004). Mutation analysis is also available, particularly for populations in whom the common disease alleles are known (e.g., mutations among Ashkenazi Jews for Gaucher, Tay-Sachs, Niemann-Pick type A, and mucolipidosis type IV Ostrer, 2001). In other cases, analysis of the gene defect responsible for rare subtypes is available through specialized laboratories. 

Amyloidosis, fatty liver, glycogenoses, Wolman s syndrome, hyperchylomicronaemia, Wilson s disease, Zellweger s cerebrohepato renal syndrome, Niemann-Pick disease, mucopolysaccharidoses, etc. 

Type E is also known as the sea-blue histiocytes syndrome and is considered to be a special form of Niemann-Pick disease found in adults. The stored, ceroid-like, acid-proof and PAS-positive pigment shows a sea-blue colour on Giemsa staining. Hepatosplenomegaly is present thrombopenia is likewise in evidence due to bone marrow involvement. Cirrhosis may develop. The prognosis is considered to be good. (243)... 

Haemophilia Hypercholesterinaemia Hyperlipoproteinaemia II Niemann-Pick disease Oxalosis Porphyria Reye s disease Sanfilippo s syndrome Sickle cell anaemia Thalassaemia (P)... 

When one young woman on chronic parenteral nutrition for short bowel syndrome presented with hepato-splenomegaly and pancytopenia (78), bone marrow examination showed the sea-blue histiocytes to be lipidladen macrophages. The total amount of fat in the regimen was subsequently reduced, and there was partial hematological improvement. The condition observed in this patient is analogous to that which occurs in Gaucher s disease and Niemann-Pick disease. 

Cystine storage disease Gaucher s disease Glycogen stora ge disease Juvenile, Tay-Sachs disease Niemann-Pick disease Tay-Sachs disease Chronic renal failure Hemolytic-uremic syndrome Nephrotic syndrome Benign recurrent intrahepatic cholestasis... 

Differential diagnosis from Tay-Sachs disease is possible on the basis of visceral storage, from Niemann-Pick disease and Gaucher s disease through the identification of the stored lipid and from Hurler s syndrome by the storage and excretion of acid mucopolysaccharides in the latter. 

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