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Early neurological manifestations and brain anomalies in marden‐walker syndrome

1992; Wiley; Volume: 44; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320440110

1096-8628

Alfredo Garcı́a-Alix, Dorotea Blanco, Fernando Cabañas, Pilar Garcia Sanchez, Adelina Pellicer, J Quero,

Neonatal and fetal brain pathology

Abstract We report on an infant with the Marden‐Walker syndrome. In addition to the consistent neurological abnormalities described previously in this syndrome, the infant had a striking neurological constellation, absence of primitive reflexes, jerky eye movements, failure to habituate to repeated stimuli, inadequate behavior development, and absence of orientation responses to visual or auditory stimuli. Muscle biopsy showed a similar pattern to the congenital fiber‐type disproportion. Ultrasonograms and magnetic resonance imaging of his brain demonstrated absence of corpus callosum, colpocephaly, hypoplastic brainstem, hypoplasia of the inferior vermis and of the cerebellar hemispheres. These findings further delineate this syndrome and suggest that prenatal central nervous system (CNS) dysfunction, mainly of the cerebellum and brainstem, may play a significant role in the pathogenesis of the Marden‐Walker syndrome. © 1992 Wiley‐Liss, Inc.