............................................................................................................... x

Sea-blue histiocytosis is a rare disorder seen in patients with lipid metabolic or ceroid storage diseases. Sea-blue histiocytes are ceroid-laden macrophages detectable by May-Giemsa staining. We report a case of a 28-year-old woman diagnosed with Niemann-Pick disease at 2 or 3 years of age. To confirm this diagnosis, we examined her bone marrow, which revealed scattered foci containing aggrega...

Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann-Pick disease types A and B. Using previously published multiplex and single assay conditions, normal acid sphingomyelinase activity levels (i.e. false negative results) were observed in two sisters with Niemann-Pick B who were comp...

1. Niemann-Pick disease type C (NP-C) is an autosomal recessive lipidosis with protean clinical manifestations, distinguished biochemically by a unique error in cellular trafficking of exogenous cholesterol that is associated with lysosomal accumulation of unesterified cholesterol. A majority of patients with this phenotype are linked genetically to chromosome 18, the locus of Niemann-Pick dise...

Niemann-Pick is a lipid storage disease that results from a lysosomal enzyme deficiency (sphingomyelinase). It has different presentations, and it may affect various organs such as the central nervous system, kidney, liver, and spleen. Due to the complexity of the disease, careful perianesthetic management is necessary in order to reduce the risks and sequels. As there is little evidence availa...

A 51 year old man presented in 1969 with slowly progressive cerebellar ataxia of unknown origin. He was admitted to hospital aged 68 after a fall, and a ruptured spleen was removed at laparotomy. Histological analysis of the spleen suggested Niemann-Pick disease, which was subsequently confirmed. He deteriorated and died of bronchopneumonia shortly afterwards: subdural haemorrhage with storage ...

The molecular basis of Niemann-Pick disease, type A and B, has been confirmed by detection of mutations causing deficiency of the acid sphingomyelinase activity in the patients. It has been shown that mutations, which cause no activity of acid sphingomyelinase, are responsible for the type A and mutations which cause residual activities of the enzyme are responsible for the type B. Acid sphingo...