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Joubert syndrome: a major brain malformation.

Jaydeb Ray1, Avijit Guha Majumder, Dipankar Das

  • 1Department of Paediatrics, The Institute of Child Health, Kolkata.

Journal of the Indian Medical Association
|January 9, 2008
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Summary

Joubert syndrome, a rare genetic disorder, was diagnosed in an infant presenting with characteristic symptoms and a distinctive "molar tooth" sign on MRI. This case highlights early diagnosis in infancy for this cerebellar and brainstem malformation.

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Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Joubert syndrome is a rare autosomal recessive genetic disorder.
  • It is characterized by cerebellar vermis hypoplasia and brainstem malformation.
  • Clinical features include ataxia, abnormal breathing, nystagmus, hypotonia, and intellectual disability.

Observation:

  • A two-month-old infant presented with symptoms consistent with Joubert syndrome.
  • Magnetic Resonance Imaging (MRI) revealed the classic "molar tooth" sign.
  • This sign involves the superior cerebellar peduncles, a hallmark of the condition.

Findings:

  • The case presented demonstrates Joubert syndrome diagnosed in early infancy.
  • The "molar tooth" appearance on MRI confirmed the diagnosis.
  • Early identification is crucial for managing associated symptoms.

Implications:

  • This case underscores the importance of recognizing Joubert syndrome symptoms early in infancy.
  • Timely diagnosis facilitates prompt management and intervention strategies.
  • Further research into early diagnostic markers for Joubert syndrome is warranted.