title: [A patient of Walker-Warburg syndrome with a haplotype different from that in Fukuyama-type congenital muscular dystrophy].
abstract: A 3-month-old female baby was diagnosed as having Walker-Warburg syndrome (WWS), based on the following clinical findings: type II lissencephaly associated with marked ventricular dilatation, cerebellar malformation, retinal malformation, elevated serum creatine kinase level and abnormal muscle CT findings. She was a product of parents with consanguineous marriage. She presented with severe hypotonia and profound psychomotor retardation since birth. She developed infantile spasms at 8 months of age, and vitamin B6 was very effective. A genetic analysis revealed the absence of the founder haplotype commonly seen in Fukuyama-type congenital muscular dystrophy (FCMD), suggesting that the WWS gene is not always identical to the FCMD gene. When she was examined at the age of 4 years, she had no apparent further psychomotor development. Her clinical symptoms were more severe than those of the typical FCMD.
authors.affiliation: Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo.
authors.forename: M
authors.initials: M
authors.lastname: Sasaki
authors.forename: E
authors.initials: E
authors.lastname: Kondo
authors.forename: Y
authors.initials: Y
authors.lastname: Yamashita
authors.forename: T
authors.initials: T
authors.lastname: Toda
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D003402:Creatine Kinase / Q000097:blood; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007223:Infant; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics*; D013577:Syndrome
chemical_list: D003402:Creatine Kinase