Niemann-Pick disease

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Description from OMIM

Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded a single entity with a clinical spectrum (summary by Schuchman, 2007). Knudson and Kaplan (1962) suggested that 3 types of the disorder can be distinguished: infantile cerebral, juvenile cerebral, and noncerebral. Later, 5 forms of Niemann-Pick disease were distinguished. Four were delineated by Crocker (1961): the classical infantile form (type A), the visceral form (type B), the subacute or juvenile form (type C; 257220), and the Nova Scotian variant (type D; see 257220). The fifth, the adult form (type E; see 607616), was described by Terry et al. (1954) and Lynn and Terry (1964). Schneider et al. (1978) used the designation type F (see 607616) for a form characterized in 2 patients by a thermolabile enzyme. Most patients fall into Crocker's group A, with death before age 3 years. Schuchman (2007) provided a detailed review of Niemann-Pick disease type A, including clinical management.

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 16434659 2014-02-06
Failure to thrive multi 100 % 16434659 2014-02-06
Irritability nervous 100 % 16434659 2014-02-06
Weight loss multi 100 % 16434659 2014-02-06
Hypotonia nervous 100 % 16434659 2014-02-06
Areflexia nervous 100 % 16434659 2014-02-06
Retinal cherry red spot nervous 100 % 16434659 2014-02-06
Thrombocytopenia circulatory 100 % 16434659 2014-02-06
Hypercholesterolemia circulatory 100 % 16434659 2014-02-06
Hypertriglyceridemia circulatory 100 % 16434659 2014-02-06
Increased blood transaminase digestive 100 % 16434659 2014-02-06
Vomiting digestive 80 % 16434659 2014-02-06
Macrocephaly nervous 20 % 16434659 2014-02-06
Nystagmus nervous 20 % 16434659 2014-02-06

List of references:

Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.
M M McGovern, A Aron, S E Brodie, R J Desnick, M P Wasserstein,

To describe the disease course and natural history of Type A Niemann-Pick disease (NPD).

Neurology - Jan 2006