Adult Niemann-Pick disease type B with myositis ossificans: a case report.
Niemann-Pick Disease (NPD) is a rare autosomal recessive lysosomal lipid storage disorder. The disease is caused by gene mutations that affect the metabolism of sphingolipids. The dysfunctions cause sphingomyelin to accumulate in different organs. NPD includes forms with low and high levels of sphingomyelin. We report a case of a 34 year-old man with a family history of NPD type B who presented with hepatosplenomegaly, neurological deficiency, bone abnormalities, and myositis ossificans. The clinical, biochemical, and imaging data confirmed the combined diagnosis of NPD type B with myositis ossificans.
R
R
Shumnalieva
S
S
Monov
V
V
Shoumnalieva-Ivanova
R
R
Rashkov
D000328:Adult; D006801:Humans; D008297:Male; D009221:Myositis Ossificans / Q000150:complications* / Q000000981:diagnostic imaging; D052537:Niemann-Pick Disease, Type B / Q000150:complications*