Asano Y, Minagawa K, Okuda A, Matsui T, Ando K, Kondo-Iida E, Kobayashi O, Toda T, Nonaka I, Tanizawa T
Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, 663-8501, Hyogo, Japan.
Brain Dev. 2000 Oct;22(7):454-7. doi: 10.1016/s0387-7604(00)00181-9.
Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cerebellar and retinal anomalies, and congenital muscular dystrophy. We report a female diagnosed with WWS based on clinical criteria. This patient was found to have fetal hydrocephalus on ultrasonography at 29 weeks of gestation, and exhibited severe hypotonia, ocular malformations, and hydrocephalus at birth. MRI revealed type II lissencephaly, hydrocephalus, and other severe brain malformations. Genetic analysis was performed to distinguish WWS from severe Fukuyama-type congenital muscular dystrophy (FCMD), which has numerous findings in common. This revealed no expression of the founder haplotype or single-stranded conformation polymorphism (SSCP) abnormalities. Since the life expectancy of patients with FCMD is longer, differential diagnosis should be performed precisely.
沃克-沃伯格综合征（WWS）是一种常染色体隐性疾病，其特征为II型无脑回畸形、小脑和视网膜异常以及先天性肌营养不良。我们报告了一名根据临床标准被诊断为WWS的女性患者。该患者在妊娠29周时超声检查发现胎儿脑积水，出生时表现为严重肌张力减退、眼部畸形和脑积水。磁共振成像（MRI）显示为II型无脑回畸形、脑积水和其他严重脑畸形。进行了基因分析以区分WWS与严重的福山型先天性肌营养不良（FCMD），后者有许多共同表现。结果显示未发现奠基者单倍型表达或单链构象多态性（SSCP）异常。由于FCMD患者的预期寿命更长，因此应进行精确的鉴别诊断。
