Niemann-Pick disease type B with ocular involvement: report of a case.
Niemann-Pick disease (NPD) type B was diagnosed clinically and enzymatically in a 5-year-old girl presenting with failure to thrive, hepatosplenomegaly, diffuse interstitial infiltration of both lungs on chest roentgenograms, cherry red spot, and foam cells in the bone marrow aspirate. Intelligence and neurological examination were normal, sphingomyelinase activity was severely deficient in cultured skin fibroblasts. We present the first case of NPD type B in Taiwan and relevant literatures were reviewed.
Tsai
F J
FJ
Department of Pediatrics, China Medical College Hospital, Taichung, R.O.C.
Peng
C T
CT
Tsai
C H
CH
Hwu
W L
WL
Wang
T R
TR
D002675:Child, Preschool; D005260:Female; D006801:Humans; D008266:Macula Lutea; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000201:enzymology; D012164:Retinal Diseases / Q000209:etiology*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency
D013108:Sphingomyelin Phosphodiesterase