What are the signs and symptoms of Walker-Warburg syndrome?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Mutations in all glycotransferases can cause this most severe form of congenital muscular dystrophy. Presentation is in utero or at birth, with hypotonia, poor suck and swallow, and contractures.

Progressive disease results in no developmental progress. The average time to death is 9 months.

Eye abnormalities include microphthalmos, hypoplastic optic nerve, ocular colobomas, retinal detachment, cataracts, glaucoma, iris malformation, and corneal opacities, all of which lead to blindness.

Brain abnormalities include complete type II lissencephaly with agyria.

  • Other cerebral defects include a thin cortical mantle, an absent corpus callosum, fusion of the cerebral hemispheres, and hypoplasia of the pyramidal tracts.

  • Posterior fossa abnormalities include severe cerebellar atrophy of the vermis and hemispheres, arachnoid cysts, and a hypoplastic brainstem.

  • Meningocele or encephalocele, usually of the posterior fossa, is present in 25% of patients.

  • Microcephaly, ventricular dilation, and obstructive hydrocephalus are common.

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