Walker-Warburg syndrome

Binodini M.Chauhan, MD.

Surat, India.

Introduction

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.

Synonyms

HARD +/-E Syndrome (Hydrocephalus, Agyria, and Retinal Dysplasia, with or without encephalocele)
Cerebroocular Dysgenesis
Hydrocephalus, Agyria, and Retinal Dysplasia
Cerebroocular Dysplasia-Muscular Dystrophy syndrome
Cerebroocular Dysgenesis, COD

Case report

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.

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Images 5,6: Image 5 shows presence of the middle cerebral artery which rules out Hydranencephaly as a possible differential diagnosis. Image 6 show cataract and retinal detachment indicated by the green arrow.

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Images 7-9: Images of the left eye cataract. Note the echogenicity of the lens.

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Video: Hydrocephalus and eye cataract is demonstrated on this video.

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