The presence of an inflammatory myopathy preceding dystrophic changes in a patient with Walker-Warburg syndrome suggests that an aberrant inflammatory process, likely under genetic control, may contribute to the syndrome's etiology.
Early inflammation precedes dystrophy in this Walker-Warburg case; leaves open a possible genetically driven inflammatory contribution to pathogenesis.
Walker-Warburg syndrome is a well delineated clinical entity with characteristic brain and eye anomalies. Recent diagnostic surveys have revealed that muscular dystrophy is an obligatory feature of this syndrome. We report a patient with an inflammatory myopathy that preceded dystrophic changes. While reports of parental consanguinity and multiple affected sibships strongly suggest an autosomal recessive genetic basis for this syndrome, previous pathological analyses of the CNS have suggested an inflammatory process. Our case supports both the notion of an aberrant inflammatory process that is likely under genetic control or etiologic heterogeneity (phenocopies) underlying this syndrome.
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Michael et al. (1993) studied this question.
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