Niemann-Pick disease

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Niemann-Pick disease Microchapters

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Differentiating Niemann-Pick disease from other Diseases

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Natural History, Complications and Prognosis

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Case #1

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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

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Niemann-Pick disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

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

Treatment

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

Case Studies

Case #1

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