Joubert syndrome: a case report

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 benefit multidisciplinary rehabilitation team approach describe clinical associated with syndrome. In this report, we have discussed 9-month-old girl who presented impaired vision, history recurrent respiratory infection distress. On examination, she had facial dysmorphism, myopia, hypotonia. Brain magnetic resonance imaging showed thick, elongated, abnormally oriented superior cerebellar peduncle showing molar tooth appearance elongated bat-wing shaped 4th ventricle hypoplasia vermis suggestive JS. patient has been treated at Garden Reach Institute for Rehabilitation Research (GRIRR), Kolkata, India, physiotherapist, speech therapist, special educator, orthotist, medical officer, social worker shown excellent improvement in her condition, achieved good sitting balance, able sit without support, stand wall walk using bilateral AFO reverse walker. Conclusion Knowledge characteristic radiological findings JS will help early diagnosis successful rehabilitation.