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.

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient

Spontaneous splenic rupture as the first clinical manifestation of

IJMS, Free Full-Text

Morbidity and mortality in type B Niemann–Pick disease - Genetics

Niemann-Pick Disease disease: Malacards - Research Articles, Drugs

PDF) Niemann-Pick type A disease with new mutation: a case report

Patient with Niemann-Pick disease type C: over 20 years' follow-up

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and

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

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

Niemann–Pick disease, type C - Wikipedia

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

PDF) Lung cyst: An unusual manifestation of Niemann–Pick disease