Abstract
BackgroundJoubert 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 presentationThe 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.ConclusionKnowledge of characteristic clinical and radiological findings in JS will help in early diagnosis and successful rehabilitation.
Highlights
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 [1]
It can be diagnosed on the basis of clinical presentation and the presence of the molar tooth sign (MTS) on brain axial magnetic resonance imaging (MRI) [1, 2]
Case presentation A 9-month-old baby girl presented to the Department of Paediatrics, IPGMER Hospital, Kolkata, India, with a history of fever for 2 days and respiratory distress, where she was diagnosed with Joubert syndrome with
Summary
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. As it represents like a delayed developmental milestone, most of the cases may not be diagnosed in the early phase of childhood; the presence of respiratory distress along with delayed developmental milestones may raise the suspicion and diagnosis of JS [4]. Detection of this condition is essential so that multidisciplinary intervention, i.e., medical management along with rehabilitation, can be started as early as possible.
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