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[The infantile chronic-visceral form of niemann-Pick diseases (author's transl)]
Insights
This study reports on three children diagnosed with the rare Niemann-Pick disease, type B, characterized by enlarged liver and spleen but no central nervous system symptoms. Findings highlight hepatic dysfunction and potential peripheral nerve involvement in this visceral form of Niemann-Pick disease.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Context:
- Niemann-Pick disease is a rare lysosomal storage disorder.
- Type B Niemann-Pick disease primarily affects visceral organs.
- Distinguishing between Niemann-Pick disease subtypes is crucial for prognosis and management.
Purpose:
- To report on three pediatric cases of Niemann-Pick disease, type B.
- To detail the clinical presentation, laboratory findings, and pathological features.
- To investigate potential subclinical neurological involvement in Niemann-Pick disease type B.
Summary:
- Three pediatric patients presented with significant hepatosplenomegaly, diagnosed with Niemann-Pick disease type B based on foam cells in bone marrow and liver biopsies.
- Absence of central nervous system symptoms confirmed the diagnosis as the rare, infantile chronic-visceral form.
- All patients exhibited hepatic function disturbances; pulmonary involvement and peripheral nerve conduction abnormalities were noted in two brothers, suggesting subclinical neuropathy.
Impact:
- This case report expands the understanding of Niemann-Pick disease type B's clinical spectrum.
- Highlights the importance of thorough evaluation for visceral and peripheral nervous system involvement.
- Provides insights into the ultrastructural characteristics of lipoid storage in liver biopsies.
Abstract:
A report was made of three patients who exhibited pronounced heptosplenomegaly at the time of hospital admission: a six-year-old girl and two brothers, 1 year 4 months and 4 years 4 months of age. As is typical for Niemann-Pick disease, foam cells were found in the bone marrow and the liver biopsy specimens for the three patients. Since, however, none of the children had syptoms involving the central nervous systems, the disease must have been the rare B form of Niemann-Pick disease, the infantile chronic-visceral form. In all three patients, laboratory findings indicated a disturbance in hepatic function. The characteristic pulmonary involvement associated with the infantile form was found only in the two brothers, and then in a follow-up examination one year later. The reduced speed of nerve conduction established in the two brothers suggested subclinical involvement of the peripheral nervous system in the disease process. Electron-microscopic examinations of liver biopsies showed various forms of lipoid storage: lipoid bodies with loose, membranous structures and bodies with dense, concentrically arranged lamellae.