Synonym(s)
Sphingomyelin lipoidosis; Sphingomyelinosis
HistoryThis section has been translated automatically.
Niemann, 1914; Pick, 1926
DefinitionThis section has been translated automatically.
Hereditary, degenerative disorder of the sphingomyelin metabolism ( sphingolipidosis) with hepatosplenomegaly beginning in childhood, delay in physical and mental development, pronounced neurological symptoms and occurrence of characteristic storage cells in the reticuloendothelial system, especially in lymph nodes, spleen, thymus, Kupffer star cells and glia cells of the brain.
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ClassificationThis section has been translated automatically.
A distinction is made between 2 types:
- Type I (subtypes A and B): deficiency of acid sphingomyelinase.
- Type II (subtypes C1, C2 and D): No defect of acid sphingomyelinase.
EtiopathogenesisThis section has been translated automatically.
Among other things, autosomal recessive mutations of the NPC1 gene (gene locus: 18q11-q12) are discussed. The 1278 amino acid long gene for NPC1 contains regions for cholesterol homeostasis; therefore, LDL-cholesterol accumulation is observed in these patients. The enzymatic degradation of the sphingomyelin molecule is extremely reduced: 0.46 vs 6.6 µmol/hour in the liver, the content in the tissue is therefore greatly increased (10 to 100 times).
Clinical featuresThis section has been translated automatically.
- Hepatosplenomegaly, lung infiltration, generalized lymph node swelling, CNS involvement, e.g. epileptiform seizures.
- Skin symptoms (non-specific): In advanced stages of the disease, often yellow-brown hyperpigmentation of the skin and mucous membranes.
TherapyThis section has been translated automatically.
Causally not possible, in case of hypersplenism a splenectomy seems to make sense.
LiteratureThis section has been translated automatically.
- Crocker AC, Farber S (1958) Niemann-Pick disease: A review of eighteen patients. Medicine (Baltimore) 37: 1-95
- Distl R et al (2003) Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brain. J catholics 200: 104-11
- Imrie J et al (2007) The natural history of Niemann-Pick disease type C in the UK. J Proprietary Metab Dis 30: 51-59
- Kvasnicka HM et al (2002) Bone marrow manifestation of Niemann-Pick disease. A review of histiocytic proliferations of the bone marrow. Pathologist 23: 486-489
- Niemann A (1914) An unknown clinical picture. Yearbook for Pediatrics, (Berlin) 79: 1-10
- Pick L (1926) Gaucher's disease and diseases similar to it (the lipoid-cell splenohepatomegaly type Niemann and the diabetic lipoid cell hypoplasia of the spleen). Results of Internal Medicine and Pediatrics (Berlin) 29: 519-627
- Vanier MT (2002) Prenatal diagnosis of Niemann-Pick diseases types A, B and C. Prenatal diagnosis 22: 630-632
- Vanier M et al (2003) Niemann-Pick disease type C. Clin Genet 64: 269-281
- Wasserstein MP et al (2003) Growth restriction in children with type B Niemann-Pick disease. J Pediatr 142: 424-428
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Dyschromatosis universalis hereditaria; Interstitial lung diseases; Lipid deposition diseases, systematized; Lysosomal storage diseases; Sphingolipidoses; Sphingomyeline; Sphingomyelin lipoidosis; Sphingomyelinosis;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer