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.