Sánchez VG, López HJF, García RR

Language: Spanish
References: 20
Page: 123-127
PDF size: 655.88 Kb.

ABSTRACT

Walker-Warburg Syndrome is an autosomic recessive entity in type II Lissencephalia. It is classified within congenital muscular dystrophy and its characteristics are: congenital hydrocephaly, front eye chamber alterations (bilateral congenital cataracts), besides retinal alterations and optic nerve atrophy. It can present convulsive crisis, hypotonia at proximal predominance birth, dystrophic changes at muscular biopsy with fibrosis, endo and perimysial in necrosis absence, electromyographic changes with low voltage potentials and muscular enzyme raising. Dandy-Walker malformations can be developed with vermis hypoplasia and mesencephalon morphology loss.

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