Joubert Syndrome: Reports of Two Cases

Abstract

Joubert syndrome related disorder(JSRD) is an autosomal recessive disorder characterized by hypotonia, abnormal eye movement,ataxia and breathing disturbance. The hall mark of the disease isthe presence of molar tooth malformationin magnetic resonance imaging (MRI) of brain. Diagnosis ofJSRD is based on clinical and neuro-radiological findings. Early and accurate diagnosis can help in planning the early intervention measures to reduce morbidity. Here, we report two cases. The first case, a 15 month old female baby, presented with hypotonia, polydactyly and seizure with molar tooth sign (MTS) in the MRI of brain.The second case, a three and a half-year-old child presented with developmental delay, hypotonia, abnormal eye movement, seizure and classical MTS in MRI of brain.
 J Bangladesh Coll Phys Surg 2021; 39(2): 132-136