Walker-Warburg syndrome is a rare form of autosomal recessive condition characterized by hydrocephalus, lissencephaly, ocular abnormalities with or without encephalocele. it is often associated with distinct muscular dystrophies. Affected individuals usually die within the first few months of life.
HARD +/-E Syndrome (Hydrocephalus, Agyria, and Retinal Dysplasia, with or without encephalocele)
Hydrocephalus, Agyria, and Retinal Dysplasia
Cerebroocular Dysplasia-Muscular Dystrophy syndrome
Cerebroocular Dysgenesis, COD
This a case of a 26-year-old G1P0 with non-contributive family or personal history. She was referred to our department at 23 weeks of gestation for the ventriculomegaly. The ultrasound scan showed the following findings:
Hydrocephalus, bilateral massive dilatation of the lateral ventricles
Hypoplasia of the cerebellum and vermis
Absent corpus callosum
Unilateral eye cataract with retinal detachment
Walker-Warburg syndrome was diagnosed based on the findings of hydrocephalus and ocular abnormalities. Unfortunately we lost a follow-up of the patient because she was from a distant rural area.
Images 1-4:: Images show a hydrocephalus, the lateral ventricles are massively dilated.