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[Joubert's syndrome. Presentation of two adult siblings with favorable evolution]

I Pascual-Castroviejo1, S I Pascual-Pascual

  • 1Servicio de Neurologia Pediátrica, Hospital Universitario La Paz, Madrid, Spain. pascas@inves.es

Neurologia (Barcelona, Spain)
|February 6, 2004
PubMed

Insights

Joubert syndrome, a rare genetic disorder, can present with neonatal breathing issues. This study highlights the long-term, progressive psychic and motor improvements observed in two adult siblings with Joubert syndrome.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Joubert syndrome is a rare autosomal recessive ciliopathy.
  • Characterized by a distinctive cerebellar and brainstem malformation known as the molar tooth sign.
  • Often associated with neonatal respiratory dysfunction and developmental delays.

Observation:

  • Two siblings diagnosed with Joubert syndrome were followed from infancy to adulthood (26 and 22 years old).
  • Initial neonatal period presented with breathing problems of unknown origin.
  • Patients exhibited progressive psychic and motor improvement over time.

Findings:

  • Both siblings achieved a "borderline" mental level with significant functional independence.
  • They possess skills in reading, writing, basic mathematics, and computer use.
  • Demonstrated good social integration, independent self-care, and engagement in familial agriculture and recreational activities.
  • Normal gait but difficulty running; language is normal though slow.
  • Ocular findings included bilateral strabismus in one sibling and unilateral ptosis in the other.

Implications:

  • This case series underscores the potential for substantial long-term functional recovery and social adaptation in individuals with Joubert syndrome.
  • Highlights the importance of early diagnosis and comprehensive, long-term multidisciplinary care.
  • Suggests that despite initial challenges, individuals with Joubert syndrome can achieve a meaningful level of independence and community integration.

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