Walker-warburg syndrome: reports of two cases
Arq. neuropsiquiatr
;
57(3A): 672-7, set. 1999. ilus
Artigo
em Inglês
| LILACS
| ID: lil-242275
ABSTRACT
The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD). They were studied in their clinical, laboratory, and neuroradiologic features. The index case had a brain magnetic resonance imaging (MRI) and the second patient had a head computerized tomography (CT). In addition, a literature review was performed to describe the main forms of CMD. The index case fulfilled all criteria for WWS. A brain MRI performed at age 4 months served to corroborate the clinical diagnosis, showing severe hydrocephalus, type II lissencephaly, cerebellar vermian aplasia, and a hypoplastic brain stem. The authors were able to establish a retrospective diagnosis of WWS in the index cases's older sister, based upon her clinical picture and head CT report.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Hidrocefalia
/
Distrofias Musculares
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Inglês
Revista:
Arq. neuropsiquiatr
Assunto da revista:
Neurologia
/
Psiquiatria
Ano de publicação:
1999
Tipo de documento:
Artigo
País de afiliação:
Brasil
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