Atretic Occipital Encephalocele in A Case of Joubert’s Syndrome
Journal Title: Scholars Journal of Medical Case Reports - Year 2017, Vol 5, Issue 10
Abstract
Atretic Occipital Encephalocele in A Case of Joubert’s Syndrome Abstract:Joubert syndrome isa very rare malformation. It is an uncommon autosomal recessive neurodevelopmental disorder involving cerebellar vermis and brain stem. It is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. Joubert syndrome is an autosomal recessive disorder marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. We report a 12 month-old girl who presented with developmental delay, failure to thrive, decrease vision and abnormal eye moments. On examination decreased muscle tone, nystagmus, and gait ataxia is present. Keywords:Joubert syndrome, cerebellar vermis, nystagmus, gait ataxia
Authors and Affiliations
Suhail Rafiq, Feroze Shaheen, Inayat Ellahi, Imran Nazir, Sayar Teli
Keywords
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