Walker-warburg syndrome: reports of two cases
Arq. neuropsiquiatr
; 57(3A): 672-7, set. 1999. ilus
Article
en En
| LILACS
| ID: lil-242275
Biblioteca responsable:
BR1.1
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:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Hidrocefalia
/
Distrofias Musculares
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Arq. neuropsiquiatr
Asunto de la revista:
NEUROLOGIA
/
PSIQUIATRIA
Año:
1999
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Brasil