Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management.

ABSTRACT: 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 mu

SUBMITTER: Ordieres-Ortega L 

PROVIDER: S-EPMC7203852 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature