Title: A Case Report of Walker Warburg Syndrome: A Rare Case with Multiple Uncommon Features
Authors: Dr Sohini Shah, Dr Manish Gupta, Dr Kunal Singh, Dr Manish Jaiswal
DOI: https://dx.doi.org/10.18535/jmscr/v10i1.14
Abstract
Clinical History
- A full term male neonate born out of consanguineous marriage presented to us on the 3rd day of life with large head and massive hydrocephalus diagnosed during antenatal scan.
- On clinical examination there is generalized hypotonia and macrocephaly.
- On opthalmological examination: White reflex in pupillary areas of B/L eyes and micropthalmia of both eyes.
- No significant history of any infection, drug intake, diabetes mellitus radiation exposure during pregnancy.
Introduction
The walker warburg syndrome is rare autosomal recessive disorder. It is characterised by cranial, cerebellar, retinal malformation and congenital muscular dystrophy. It is manifested with cobblestone lissencephaly, agenesis of corpus callosum, hydrocephalus, cerebellar hypoplasia
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