Congenital muscular dystrophy of a non-Fukuyama type with white matter hyperlucency on CT scan.
The term "congenital muscular dystrophy (CMD)" is used for a group of diseases with heterogeneous clinical and cranial CT scan manifestations. Recently, a distinct subtype, characterized by white matter hyperlucency on CT scan but normal or nearly normal intellectual function, has been recognized in Western peoples and has even been named "occidental-type cerebromuscular dystrophy." Here, we described two Chinese siblings with this type of CMD.
Kao
K P
KP
Neurological Institute, Veterans General Hospital, Taipei, Taiwan.
Lin
K P
KP
D001921:Brain / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed