Respiratory Impairment in Acid Sphingomyelinase Deficiency (ASMD): A Case Report.

Acid sphingomyelinase deficiency (ASMD), also called Niemann-Pick disease, is a lysosomal storage disorder with some pulmonary involvement in adults. However, the disease may evolve towards clinically relevant respiratory symptoms that require referral to the pulmonologist for management. Based on two case reports illustrating respiratory impairment, the aim of this video which is based on a published case report is to review clinical features, diagnosis, respiratory prognostic and therapeutics for the pulmonologist.