Tachi N, Tachi M, Sasaki K, Tanabe C, Minagawa K
Department of Pediatrics; Sapporo Medical College, Japan.
Pediatr Neurol. 1988 Jul-Aug;4(4):236-40. doi: 10.1016/0887-8994(88)90037-9.
We report the first Japanese female patient with Walker-Warburg syndrome. She had generalized muscle hypotonia with hydrocephalus due to Dandy-Walker malformation and bilateral microphthalmia with opaque corneas. She had severe motor and mental retardation. Muscle histology reflected advanced changes of muscular dystrophy. We discuss the relationship between Fukuyama congenital muscular dystrophy and Walker-Warburg syndrome, both of which fall within a spectrum of developmental abnormalities with a common cause. In Fukuyama congenital muscular dystrophy, ocular abnormalities are less severe.
我们报告了首例患有沃克-沃尔堡综合征的日本女性患者。她因丹迪-沃克畸形而出现脑积水，伴有全身肌张力减退，双眼小眼球且角膜混浊。她存在严重的运动和智力发育迟缓。肌肉组织学显示出肌营养不良的晚期变化。我们讨论了福山型先天性肌营养不良与沃克-沃尔堡综合征之间的关系，这两种疾病都属于具有共同病因的发育异常谱系。在福山型先天性肌营养不良中，眼部异常不太严重。
