Walker-Warburg syndrome: report of two cases
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) a...
Main Authors: | , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Academia Brasileira de Neurologia (ABNEURO)
1999-01-01
|
Series: | Arquivos de Neuro-Psiquiatria |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000400022 |
id |
doaj-15878529c0964ce49a9da438377273a3 |
---|---|
record_format |
Article |
spelling |
doaj-15878529c0964ce49a9da438377273a32020-11-24T23:10:41ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria0004-282X1678-42271999-01-01573A672677Walker-Warburg syndrome: report of two casesVASCONCELOS MARCIO M.GUEDES CÁSSIA R.DOMINGUES ROMEU C.VIANNA RAUL N. G.SOTERO MARCIOVIEIRA MÔNICA M.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 case's older sister, based upon her clinical picture and head CT report.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000400022childlissencephalyhydrocephaluscongenital muscular dystrophyWalker-Warburg syndrome |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
VASCONCELOS MARCIO M. GUEDES CÁSSIA R. DOMINGUES ROMEU C. VIANNA RAUL N. G. SOTERO MARCIO VIEIRA MÔNICA M. |
spellingShingle |
VASCONCELOS MARCIO M. GUEDES CÁSSIA R. DOMINGUES ROMEU C. VIANNA RAUL N. G. SOTERO MARCIO VIEIRA MÔNICA M. Walker-Warburg syndrome: report of two cases Arquivos de Neuro-Psiquiatria child lissencephaly hydrocephalus congenital muscular dystrophy Walker-Warburg syndrome |
author_facet |
VASCONCELOS MARCIO M. GUEDES CÁSSIA R. DOMINGUES ROMEU C. VIANNA RAUL N. G. SOTERO MARCIO VIEIRA MÔNICA M. |
author_sort |
VASCONCELOS MARCIO M. |
title |
Walker-Warburg syndrome: report of two cases |
title_short |
Walker-Warburg syndrome: report of two cases |
title_full |
Walker-Warburg syndrome: report of two cases |
title_fullStr |
Walker-Warburg syndrome: report of two cases |
title_full_unstemmed |
Walker-Warburg syndrome: report of two cases |
title_sort |
walker-warburg syndrome: report of two cases |
publisher |
Academia Brasileira de Neurologia (ABNEURO) |
series |
Arquivos de Neuro-Psiquiatria |
issn |
0004-282X 1678-4227 |
publishDate |
1999-01-01 |
description |
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 case's older sister, based upon her clinical picture and head CT report. |
topic |
child lissencephaly hydrocephalus congenital muscular dystrophy Walker-Warburg syndrome |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000400022 |
work_keys_str_mv |
AT vasconcelosmarciom walkerwarburgsyndromereportoftwocases AT guedescassiar walkerwarburgsyndromereportoftwocases AT dominguesromeuc walkerwarburgsyndromereportoftwocases AT viannaraulng walkerwarburgsyndromereportoftwocases AT soteromarcio walkerwarburgsyndromereportoftwocases AT vieiramonicam walkerwarburgsyndromereportoftwocases |
_version_ |
1725606074503921664 |