Niemann-Pick disease type-B: a unique case report with compound

Background Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. Case presentation We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G > A]) in which both mutations that induce an early stop codon are located before the second in-frame initiation codon. The clinical presentation of the patient is compatible with NPD type B. She was initially diagnosed of Gaucher Disease, but her altered lipid profile led to a clinical suspicion of NPD. Combined high doses of atorvastatin and ezetimibe were given to treat the severe hypercholesterolemia. Conclusions The pharmacological management of the lipid profile in these patients is important. A unique compound mutation in SMPD1 gene is described.

Niemann–Pick type C disease: cellular pathology and

Niemann-Pick Disease, A Pipeline Analysis Report 2018

Niemann-Pick Disease, Type C2 disease: Malacards - Research

PDF) A case of Niemann-Pick disease type A

Imaging Manifestations of Niemann-Pick Disease Type B

Morbidity and mortality in type B Niemann–Pick disease

Niemann-Pick disease A or B in four pediatric patients and SMPD1

PDF) Niemann - Pick Disease Type B: A Case Report

Niemann-Pick disease type C Orphanet Journal of Rare Diseases

PDF] The Natural History of Type B Niemann-Pick Disease: Results

PDF) NIEMANN PICK DISEASE – A CASE REPORT