[A case of type C Niemann-Pick disease].
We diagnosed a 3-year-old boy as type C Niemann-Pick disease by studies on cultured fibroblasts; sphingomyelinase activity was almost normal, but esterification of exogenously administered cholesterol was deficient. Also sparse cultures of his fibroblasts developed a relatively intense fluorescence with filipin that was not observed either in normal or type B Niemann-Pick fibroblasts. We tried to treat him with dimethylsulfoxide (DMSO), 100 mg-120 mg/day for a year, but it had clinically insufficient effect on our case.
Department of Pediatrics, Matsue Red Cross Hospital.
K
K
Hashimoto
T
T
Koeda
K
K
Matsubara
S
S
Ohta
K
K
Ohno
K
K
Ohmura
D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism; D004121:Dimethyl Sulfoxide / Q000627:therapeutic use*; D004951:Esterification; D005347:Fibroblasts; D006801:Humans; D008297:Male; D009542:Niemann-Pick Diseases / Q000145:classification / Q000175:diagnosis* / Q000188:drug therapy; D012867:Skin / Q000378:metabolism; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency; D014057:Tomography, X-Ray Computed
D002784:Cholesterol; D013108:Sphingomyelin Phosphodiesterase; D004121:Dimethyl Sulfoxide