Niemann-Pick disease (NPD) is a rare inherited autosomal recessive neurodegenerative disease usually diagnosed at young age. Type A and B Patients are characterized by Sphingomyelin phosphodiesterase 1 (SMPD1) gene mutation and frequently have ataxia, dystonia, early-onset cognition decline or even dementia. However, type C patients have NPD Type C (NPC1) gene mutation and can show a wide spectrum of clinical presentations, leading to potential delayed diagnosis. A 31-year-old Caucasian woman presented with dyspnea on exertion, massive splenomegaly and progressive thrombocytopenia. CT showed multiple bilateral lung nodules. Lung biopsy demonstrated intra-alveolar collection of foamy, vacuolated histiocytes. Bone marrow biopsy revealed collection of foamy, vacuolated histiocytes characteristic of NPD. Molecular test detected heterozygous A196P mutation of SMPD1 gene and one heterozygous mutation of NPC1 gene. The diagnosis of NPD type C is rendered by biochemical testing that demonstrates impaired cholesterol esterification and positive filipin staining in cultured fibroblasts.
Niemann-Pick disease, bone marrow, lung, diagnosis, gene mutation
How to Cite
Shi, Y. & Kulbacki, E. & Wang, E., (2018) “Delayed Diagnosis of Niemann-Pick Disease in a 31-year-old Caucasian Woman”, Hematopathology 3(1), p.1-4.