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Walker-warburg syndrome: reports of two cases
Vasconcelos, Marcio M; Guedes, Cássia R; Domingues, Romeu C; Vianna, Raul N. G; Sotero, Marcio; Vieira, Mônica M.
Affiliation
  • Vasconcelos, Marcio M; Universidade Federal Fluminense. Hospital Universitário Antônio Pedro.
  • Guedes, Cássia R; Universidade Federal Fluminense. Hospital Universitário Antônio Pedro. Departamento de Pediatria.
  • Domingues, Romeu C; Universidade Federal Fluminense. Hospital Universitário Antônio Pedro.
  • Vianna, Raul N. G; Universidade Federal Fluminense. Hospital Universitário Antônio Pedro.
  • Sotero, Marcio; Universidade Federal Fluminense. Hospital Universitário Antônio Pedro.
  • Vieira, Mônica M; Universidade Federal Fluminense. Hospital Universitário Antônio Pedro.
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.
Subject(s)
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
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
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