[Joubert's syndrome. Apropos of 5 cases]

Area of Science:

• Genetics
• Neurology
• Ophthalmology

Background:

• Joubert syndrome is a rare autosomal recessive ciliopathy characterized by a distinctive brainstem malformation, the molar tooth sign.
• Genetic defects in Joubert syndrome affect cilia function, crucial for cellular signaling and development.
• Consanguinity in families increases the risk of autosomal recessive disorders like Joubert syndrome.

Observation:

• Polygraphic recordings revealed characteristic polypnea and respiratory pauses during sleep in infants with Joubert syndrome.
• Breathing abnormalities were observed during both active and quiet sleep in some infants, and only active sleep in others.
• Ophthalmic examinations identified tapetoretinal degeneration in both studied sibships and chorioretinal coloboma in two affected infants.

Findings:

• The study reports five cases of Joubert syndrome across two consanguineous sibships, highlighting familial recurrence.
• Respiratory patterns varied, with polypnea and pauses occurring in active and/or quiet sleep, suggesting developmental differences in respiratory control.
• The presence of tapetoretinal degeneration and chorioretinal coloboma indicates a significant ocular phenotype associated with Joubert syndrome in these cases.

Implications:

• These findings underscore the importance of polysomnography for characterizing respiratory dysfunction in Joubert syndrome.
• The co-occurrence of ocular abnormalities suggests potential genotype-phenotype correlations that warrant further investigation.
• Understanding the spectrum of clinical manifestations, including respiratory and visual impairments, aids in comprehensive patient management and genetic counseling for Joubert syndrome.