Walker-warburg syndrome: reports of two cases
Arq. neuropsiquiatr
; 57(3A): 672-7, set. 1999. ilus
Article
in English
| LILACS
| ID: lil-242275
Responsible library:
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Hydrocephalus
/
Muscular Dystrophies
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Infant
Language:
English
Journal:
Arq. neuropsiquiatr
Journal subject:
Neurology
/
Psychiatry
Year:
1999
Document type:
Article
Affiliation country:
Brazil