Coexistence of Niemann-Pick type A and patent ductus arteriosus in an infant: An unusual clinical case

Acid sphingomyelinase (ASM) deficiency leads to impaired lysosomal degradation of sphingomyelin and produces the clinical spectrum known as Niemann–Pick disease (types A and B). The infantile neurovisceral phenotype (type A) presents early in life with progressive neurologic impairment and multiorgan involvement. We report on a seven-month-old boy evaluated for recurrent respiratory illness who was incidentally found to have a small patent ductus arteriosus (PDA) on echocardiography. Physical examination revealed coarse facies, hepatosplenomegaly and developmental delay, while ophthalmologic assessment demonstrated bilateral cherry-red maculae. Molecular testing identified a homozygous nonsense variant in the SMPD1 gene, confirming Niemann–Pick disease type A. Association of this metabolic disorder with a structural cardiac lesion is unusual and highlights the importance of comprehensive systemic assessment in infants suspected of storage disorders.