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Inflammatory Myopathy and Walker-Warburg Syndrome: Etiologic Implications

Published online by Cambridge University Press:  18 September 2015

I. Shevell Michael*
Affiliation:
Division of Pediatric Neurology, Montreal Children’s Hospital; and Departments of Neurology/Neurosurgery & Pediatrics, McGil University, Montreal
Rosenblatt Bernard*
Affiliation:
Division of Pediatric Neurology, Montreal Children’s Hospital; and Departments of Neurology/Neurosurgery & Pediatrics, McGil University, Montreal
Silver Kenneth*
Affiliation:
Division of Pediatric Neurology, Montreal Children’s Hospital; and Departments of Neurology/Neurosurgery & Pediatrics, McGil University, Montreal
*
A-514, Montreal Children’s Hospital, 2300 Tupper, Montreal. Quebec, Canada H3H 1P3
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Abstract:

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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 syndome. 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.

Type
Research Article
Copyright
Copyright © Canadian Neurological Sciences Federation 1993

References

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