Walker-Warburg syndrome: report of two cases

• Main Authors: VASCONCELOS MARCIO M., GUEDES CÁSSIA R., DOMINGUES ROMEU C., VIANNA RAUL N. G., SOTERO MARCIO, VIEIRA MÔNICA M.
• Format: Article
• Language: English
• Published: Academia Brasileira de Neurologia (ABNEURO) 1999-01-01
• Series: Arquivos de Neuro-Psiquiatria
• Subjects: child; lissencephaly; hydrocephalus; congenital muscular dystrophy; Walker-Warburg syndrome
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000400022
• ISSN: 0004-282X; 1678-4227

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.