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Joubert syndrome presenting with motor delay and oculomotor apraxia

Harjinder Gill1, Brinda Muthusamy, Denize Atan

  • 1Community Paediatrics, The Children's Hospital, Oxford University Hospitals, Headley Way, Headington, Oxford OX3 9DU, UK.

Case Reports in Pediatrics
|May 19, 2012
PubMed

Insights

Joubert syndrome, a rare genetic disorder, was diagnosed in two sisters with developmental delays and unique eye movement issues. Early recognition of these symptoms is crucial for timely diagnosis and care.

Area of Science:

  • Neurology
  • Genetics
  • Ophthalmology

Background:

  • Joubert syndrome and Related Disorders (JSRD) are genetically diverse ciliopathies.
  • Early childhood presentation often includes motor delay and atypical eye movements.

Observation:

  • Two sisters presented with motor delay, hypotonia, and poor visual attention.
  • Both developed a specific form of oculomotor apraxia (OMA) characterized by head thrusts for fixation maintenance.
  • Initial investigations, including MRI, did not yield a diagnosis for the elder sibling.

Findings:

  • Cranial MRI revealed the characteristic "molar tooth sign" (MTS) in the elder sister.
  • The MTS confirmed Joubert syndrome, which was also diagnosed in the younger sister.
  • The sisters exhibited a similar, unusual oculomotor apraxia pattern.

Implications:

  • This case highlights the importance of considering JSRD in children with developmental delays and unusual eye movements.
  • Recognizing the specific oculomotor apraxia and MTS aids in diagnosing this spectrum of disorders.
  • Prompt diagnosis of Joubert syndrome facilitates appropriate clinical management and genetic counseling.

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