MRI in Children with familial developmental delay: Joubert syndrome in Siblings

Dr.Vijayan.A.P; Dr.Manjula Anand; Dr.Khais kuningatt

Volume : VII, Issue : III, March - 2017

MRI in Children with familial developmental delay: Joubert syndrome in Siblings

Dr. Vijayan. A. P, Dr. Manjula Anand, Dr. Khais Kuningatt

Abstract :

In this report, we describe the occurrence of familial developmental delay in two siblings with emphasis on the role of MRI in making the diagnosis. MRI is seldom a very useful diagnostic test in the evaluation of children with developmental delay. “Molar tooth sign”, seen on ain magnetic resonance imaging illustrates the typical neuro–radiological appearance of Joubert syndrome where all other investigations will be normal. In this syndrome children with delayed development associated with hypotonia,abnormal respiratory pattern, ocular abnormalities, ataxia and developmental retardation will show malformations of ain stem and cerebellum in MRI