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Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges

Ahmed Alshafei Elmahi Ahmed1, Mehad Mortada BadrAlden Ahmed2, Aisha Gameraldeen Abdalrhim Ibrahim2

  • 1Faculty of Medicine The National Ribat University Khartoum Sudan.

Clinical Case Reports
|August 1, 2025
PubMed

Insights

Joubert Syndrome diagnosis is difficult in low-resource areas like Sudan. Early suspicion, accessible MRI, and genetic counseling are crucial for identifying this rare condition in underrepresented groups.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Global Health

Background:

  • Joubert Syndrome is a rare ciliopathy.
  • Diagnosis is challenging due to complex symptoms and limited resources.
  • Underdiagnosis is prevalent in underrepresented populations.

Purpose of the Study:

  • To highlight diagnostic challenges of Joubert Syndrome in Sudan.
  • To emphasize the need for improved diagnostic strategies in low-resource settings.
  • To advocate for increased awareness and accessibility of diagnostic tools.

Main Methods:

  • Case study of sibling cases.
  • Clinical evaluation for neurodevelopmental delays.
  • Magnetic Resonance Imaging (MRI) for molar tooth sign confirmation.

Main Results:

  • Sibling cases presented with consistent neurodevelopmental delays.
  • MRI confirmed the characteristic molar tooth sign in affected siblings.
  • Diagnostic delays were evident due to resource limitations.

Conclusions:

  • Heightened clinical suspicion is vital for early Joubert Syndrome detection.
  • Accessible neuroimaging, like MRI, is crucial for diagnosis.
  • Genetic counseling is essential for families and addressing underdiagnosis in vulnerable populations.

Keywords:
AfricaJoubert syndromeSudandevelopmental milestonesgenetic disordermagnetic resonance imagingmolar tooth sign

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