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<p>Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with a prevalence of approximately 1 in 80,000 to 100,000 live births worldwide. It is characterized by a range of systemic and neurological abnormalities, with the agenesis of the cerebellar vermis being a key feature, often identified as the “molar tooth sign” on magnetic resonance imaging (MRI) of the midbrain. This case report describes a 28-year-old female with JS and comorbid intellectual disability, the first reported instance in the United Arab Emirates (UAE). The patient’s clinical presentation, including developmental delay, ataxia, and intellectual disability, is discussed along with the diagnostic findings and management difficulties encountered. This report underscores the importance of multidisciplinary psychiatric and psychosocial care in addressing the complex neurobehavioural needs of affected individuals.</p>

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Joubert syndrome with intellectual disability: the first documented case from the United Arab Emirates

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月21日

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  • Joman Salem Alshereida,
  • Syed Ali Bokhari,
  • Madhusudan Deepak Thalitaya

摘要

Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with a prevalence of approximately 1 in 80,000 to 100,000 live births worldwide. It is characterized by a range of systemic and neurological abnormalities, with the agenesis of the cerebellar vermis being a key feature, often identified as the “molar tooth sign” on magnetic resonance imaging (MRI) of the midbrain. This case report describes a 28-year-old female with JS and comorbid intellectual disability, the first reported instance in the United Arab Emirates (UAE). The patient’s clinical presentation, including developmental delay, ataxia, and intellectual disability, is discussed along with the diagnostic findings and management difficulties encountered. This report underscores the importance of multidisciplinary psychiatric and psychosocial care in addressing the complex neurobehavioural needs of affected individuals.