Two novel associations in a case with Walker Warburg syndrome; Enophthalmia, interhemispheric cyst and cerebral hematoma

There were severe brain malformations, hydrocephaly, myopathy and congenital cataract in a 5-month old girl presented with seizure. Walker Warburg syndrome is the most severe form of congenital muscular dystrophy accompanied by brain and eye anomalies. The findings in this case fulfilling diagnostic criteria of Walker Warburg syndrome other than type 2 lissencephaly suggest an intermediate form between Walker Warburg syndrome and muscle-eye-brain disease. In this manuscript, we intended to present this case presenting features (enophthalmia, interhemispheric cyst and cerebral hematoma) not reported previously in the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies.


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