Abstract:
Vici Syndrome is a rare an autosomal recessive multisystem disorder. It Department of Neurology, Armed usually presents in early infancy and is recognized by key features of, Forces Hospital, Southern Region, immunodeficiency, generalized hypotonia, agenesis of corpus callosum, Saudi Arabia delayed developmental milestones, cataracts, convulsions, E-mail: cardiomyopathy, and hypopigmentation of hair and skin. Here we report muhammad964@hotmail.com a 16 month-old-boy who admitted to our hospital with seizures, failure to thrive, generalized hypotonia, hypertrophic cardiomyopathy and absent corpus callosum on MRI.
Page(s):
217-219
DOI:
DOI not available
Published:
Journal: Pakistan Paediatric Journal, Volume: 42, Issue: 3, Year: 2018
Keywords:
Cardiomyopathy
,
Failure to thrive
,
Vici syndrome
,
absent corpus callosum
,
EPG5 gene mutation
,
hypopigmentation