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Walker-Warburg Syndrome
Introduction
Walker-Warburg syndrome (WWS) is a rare, lethal congenital diffuse neurodysplasia, characterized by variable ocular and cerebral abnormalities. Cerebral findings include ventriculomegaly, encephalocele, and Dandy-Walker malformation. Ocular findings are varied, may occur in the posterior or anterior segments of the eye, or both, and include microphthalmia, congenital cataracts, corneal opacities, nonreactive pupils, iris synechiae, optic disk colobomas, and retinal dysplasia or detachment.
Disease
Definition
The principal morphologic diagnostic criteria of WWS are lissencephaly, cerebellar and ocular abnormalities, and congenital muscular dystrophy.
Prevalence and Epidemiology
WWS is a rare disease with a worldwide distribution. Although the overall incidence is unknown, a survey in Italy reported an incidence of 1.2 : 100,000 live births. WWS has been noted to recur in siblings, especially in consanguineous families, suggesting an autosomal recessive mode of inheritance.
Etiology and Pathophysiology
Several genes have been implicated in the etiology of WWS with considerable heterogeneity. Approximately 20% of patients have mutations in the protein O -mannosyltransferase 1 and 2 ( POMT1 and POMT2 ) genes, which are essential for muscle and neuronal development. The neurodysplasia has been attributed to failure of neuronal migration between the sixth and ninth weeks of gestation ; this may result from toxins, drugs, infections, radiation, or chromosomal aberrations. The ocular abnormalities are considered the result of abnormal differentiation of eye structures.
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