Niemann-Pick disease

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Christeen Henen, M.D. [2]

Synonyms and keywords: NPD

Type A Niemann-Pick disease: classical Niemann-Pick disease; Niemann-Pick disease, acute neuronopathic form; sphingomyelin lipidosis; sphingomyelinase deficiency

Type B Niemann-Pick disease: Niemann-Pick disease, adult non-neuronopathic; Niemann-Pick disease, visceral; Niemann-Pick disease, type E

Type C Niemann-Pick disease: Neurovisceral storage disease with vertical supranuclear ophthalmoplegia; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease without sphingomyelinase deficiency; Niemann-Pick disease, chronic neuronopathic form; Niemann-Pick disease, subacute juvenile form; Niemann-Pick disease, type D; Nova Scotia Niemann-Pick disease

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case #1

• Lysosomal storage disease
• Lipid storage disorders
• Gaucher’s disease
• Tay-Sachs disease
• Leukodystrophy
• Mucopolysaccharidoses
• Hunter syndrome
• Hurler disease
• Mucolipidoses

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