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Arq. neuropsiquiatr ; 57(3A): 672-7, set. 1999. ilus
Article in English | LILACS | ID: lil-242275

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)
Humans , Female , Infant , Hydrocephalus/diagnosis , Muscular Dystrophies/congenital , Muscular Dystrophies/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/pathology , Brain/abnormalities , Brain/pathology , Hydrocephalus/pathology , Magnetic Resonance Imaging , Muscular Dystrophies/classification , Muscular Dystrophies/pathology , Prenatal Diagnosis , Syndrome , Tomography, X-Ray Computed
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