Joubert syndrome: a case report

Abstract

Abstract Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. Case presentation The main purposes of the case report are to highlight the benefit of multidisciplinary rehabilitation team approach and describe the clinical features associated with Joubert syndrome. In this case report, we have discussed a 9-month-old girl who presented with developmental delay, impaired vision, and a history of recurrent respiratory infection with respiratory distress. On examination, she had facial dysmorphism, myopia, and hypotonia. Brain magnetic resonance imaging showed a thick, elongated, and abnormally oriented superior cerebellar peduncle showing molar tooth appearance with elongated bat-wing shaped 4th ventricle and hypoplasia of the vermis suggestive of JS. The patient has been treated at Garden Reach Institute for the Rehabilitation and Research (GRIRR), Kolkata, India, by a multidisciplinary team of physiotherapist, speech therapist, special educator, orthotist, medical officer, and social worker that shown excellent improvement in her condition, and she has achieved good sitting balance, able to sit without support, stand with wall support, and able to walk using bilateral AFO and reverse walker. Conclusion Knowledge of characteristic clinical and radiological findings in JS will help in early diagnosis and successful rehabilitation.