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Clinics in diagnostic imaging (118)

S Subramanian1, S Hari, S Santosh Kumar

  • 1Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India. drsubbusmc@yahoo.co.in

Singapore Medical Journal
|August 31, 2007
PubMed

Insights

Joubert syndrome is a rare genetic disorder diagnosed in an 18-month-old boy presenting with developmental delays and neurological symptoms. Characteristic brain MRI findings, including the molar tooth sign, confirmed the diagnosis.

Area of Science:

  • Pediatric Neurology
  • Neuroimaging
  • Genetic Disorders

Background:

  • Joubert syndrome is a rare autosomal recessive ciliopathy characterized by a distinctive brainstem malformation.
  • It presents with a wide spectrum of clinical manifestations, including developmental delay, hypotonia, and ataxia.

Observation:

  • An 18-month-old boy exhibited delayed milestones, hypotonia, strabismus, and a seizure episode.
  • Brain magnetic resonance (MR) imaging was performed to investigate the neurological symptoms.

Findings:

  • MR imaging revealed characteristic features of Joubert syndrome, including abnormally oriented and thickened superior cerebellar peduncles (molar tooth sign).
  • Additional findings included a thinned isthmus, widened interpeduncular cistern, and hypoplastic vermis, consistent with the diagnosis.

Implications:

  • Early diagnosis of Joubert syndrome through clinical and neuroimaging findings is crucial for timely management and genetic counseling.
  • Understanding the specific neuroanatomical abnormalities aids in predicting clinical outcomes and potential complications.

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