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 brain 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 brain stem and cerebellum in MRI


Keywords


Joubert, MRI, molar tooth, autosomal recessive.

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References


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