[Ondine syndrome: myth meets reality]

Area of Science:

• Genetics
• Respiratory Medicine
• Pediatrics

Background:

• Congenital central alveolar hypoventilation (CCAH), also known as Ondine Syndrome, is a rare disorder affecting the autonomic control of breathing.
• It presents as a defect in the central respiratory drive, distinct from primary cardiac, pulmonary, or neuromuscular issues.

Observation:

• This report details two family members, a mother and daughter, exhibiting diverse clinical manifestations of CCAH.
• The varied presentations highlight the diagnostic complexities associated with this condition.

Findings:

• Definitive diagnosis of CCAH relies on identifying mutations in the PHOX2B gene located on chromosome 4p13.
• The incidence is approximately 1 in 200,000 births, with a prevalence of 1 in 500,000.

Implications:

• Prompt diagnosis is vital to prevent potentially severe hypoxia and hypercapnia, thereby improving patient prognosis.
• Suspected or confirmed CCAH cases warrant evaluation at specialized reference centers for comprehensive management.