Niemann-Pick disease history and symptoms

Niemann-Pick disease Microchapters
Home
Patient Information
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
Niemann-Pick disease history and symptoms On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
American Roentgen Ray Society Images of Niemann-Pick disease history and symptoms All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Niemann-Pick disease history and symptoms
CDC on Niemann-Pick disease history and symptoms
disease history and symptoms in the news
Blogs on Niemann-Pick disease history and symptoms
Directions to Hospitals Treating Niemann-Pick disease
Risk calculators and risk factors for Niemann-Pick disease history and symptoms

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

Symptoms

Niemann-Pick Disease Type C

Visceral symptoms

Isolated unexplained splenomegaly with or without hepatomegaly, is observed in the majority of patients with NP-C and is the strongest visceral indicator of the disease. When present in combination with other neurological and/or psychiatric symptoms, including vertical supranuclear gaze palsy (VSGP), ataxia and schizophrenia-like symptoms, isolated splenomegaly becomes highly suggestive of NP-C. Isolated unexplained splenomegaly should always lead to the inclusion of NP-C in the differential diagnosis, and hence trigger a search for other symptoms of the disease. Splenomegaly in NP-C ranges from slight to tremendous enlargement, even in young children. Importantly, the degree of splenomegaly does not correlate with neurological manifestations, disease severity or illness stage. Absence of splenomegaly should not lead to the exclusion of NP-C.