Niemann-Pick Disease With Bilateral Adrenal Mass

Abstract

Abstract Niemann–Pick disease (NPD) is a heterogeneous group of lysosomal storage disorders with autosomal recessive inheritance pattern. There are 4 types of NPD. Patients with NPD type B generally have better prognosis, allowing them to survive into adulthood. They have a widespread clinical presentation, affecting multiple organs but rarely neurological involvement. Here, we describe the case of a 38-year-old woman with unexplained hepatosplenomegaly and young hypertensive intracranial bleed. Evaluation for young hypertension further revealed a nonfunctional bilateral adrenal mass and gross hepatosplenomegaly. NPD was confirmed through dried blood spot investigation. It showed low activity of acid sphingomyelinase and genetic testing also detected 2 pathogenic mutations. She is being managed by a multidisciplinary team for supportive treatment that includes regular symptoms monitoring and genetic counseling.