A case of Walker-Warburg syndrome

被引：4

作者：

Asano, Y

Minagawa, K

Okuda, A

Matsui, T

Ando, K

Kondo-Iida, E

Kobayashi, O

Toda, T

Nonaka, I

Tanizawa, T

机构：

[1] Hyogo Coll Med, Dept Pediat, Nishinomiya, Hyogo 6638501, Japan

[2] Hyogo Coll Med, Dept Radiol, Nishinomiya, Hyogo 6638501, Japan

[3] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab Genome Med,Minato Ku, Tokyo 1088639, Japan

[4] Natl Def Sch Med, Dept Pediat, Tokorozawa, Saitama 3590042, Japan

[5] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Ultrastruct Res, Tokyo 1878502, Japan

来源：

BRAIN & DEVELOPMENT | 2000年 / 22卷 / 07期

关键词：

Walker-Warburg syndrome; type II lissencephaly; Fukuyama-type congenital muscular dystrophy;

D O I：

10.1016/S0387-7604(00)00181-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 severs 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. (C) 2000 Elsevier Science B.V. All rights reserved.

引用

页码：454 / 457

页数：4

共 10 条

[1] DIAGNOSTIC-CRITERIA FOR WALKER-WARBURG SYNDROME [J].

DOBYNS, WB ;

PAGON, RA ;

ARMSTRONG, D ;

CURRY, CJR ;

GREENBERG, F ;

GRIX, A ;

HOLMES, LB ;

LAXOVA, R ;

MICHELS, VV ;

ROBINOW, M ;

ZIMMERMAN, RL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (02) :195-210

[2] CLASSIFICATION OF THE CEREBROOCULOMUSCULAR SYNDROME(S) - COMMENTARY [J].

DOBYNS, WB .

BRAIN & DEVELOPMENT, 1993, 15 (03) :242-244

[3]

FUKUYAMA Y, 1981, BRAIN DEV-JPN, V3, P1

[4]

Fukuyama Y., 1960, PAEDIATR U TOKYO, V4, P5

[5] FUKUYAMA-TYPE CONGENITAL MUSCULAR-DYSTROPHY AND THE WALKER-WARBURG SYNDROME [J].

KIMURA, S ;

SASAKI, Y ;

KOBAYASHI, T ;

OHTSUKI, N ;

TANAKA, Y ;

HARA, M ;

MIYAKE, S ;

YAMADA, M ;

IWAMOTO, H ;

MISUGI, N .

BRAIN & DEVELOPMENT, 1993, 15 (03) :182-191

[6] An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy [J].

Kobayashi, K ;

Nakahori, Y ;

Miyake, M ;

Matsumura, K ;

Kondo-Iida, E ;

Nomura, Y ;

Segawa, M ;

Yoshioka, M ;

Saito, K ;

Osawa, K ;

Hamano, K ;

Sakakihara, Y ;

Nonaka, I ;

Nakagome, Y ;

Kanazawa, I ;

Nakamura, Y ;

Tokunaga, K ;

Toda, T .

NATURE, 1998, 394 (6691) :388-392

[7]

Kondo E, 1996, AM J MED GENET, V66, P169, DOI 10.1002/(SICI)1096-8628(19961211)66:2<169::AID-AJMG8>3.0.CO

[8]

2-M

[9] LOCALIZATION OF A GENE FOR FUKUYAMA TYPE CONGENITAL MUSCULAR-DYSTROPHY TO CHROMOSOME 9Q31-33 [J].

TODA, T ;

SEGAWA, M ;

NOMURA, Y ;

NONAKA, I ;

MASUDA, K ;

ISHIHARA, T ;

SUZUKI, M ;

TOMITA, I ;

ORIGUCHI, Y ;

OHNO, K ;

MISUGI, N ;

SASAKI, Y ;

TAKADA, K ;

KAWAI, M ;

OTANI, K ;

MURAKAMI, T ;

SAITO, K ;

FUKUYAMA, Y ;

SHIMIZU, T ;

KANAZAWA, I ;

NAKAMURA, Y .

NATURE GENETICS, 1993, 5 (03) :283-286

[10]

TODA T, 2000, SHINKEI KENKYU NO SH, V44, P223

← 1 →