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.
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Ordieres-Ortega, L., Galeano-Valle, F., Mallén-Pérez, M., Munõz-Delgado, C., Apaza-Chavez, J. E., Menárguez-Palanca, F. J., … Demelo-Rodríguez, P. (2020). Niemann-Pick disease type-B: A unique case report with compound heterozygosity and complicated lipid management. BMC Medical Genetics, 21(1). https://doi.org/10.1186/s12881-020-01027-9
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