Undine (medical)

Medical condition related to breathing

Undine's curse, also known as congenital central hypoventilation syndrome (CCHS), is a rare genetic disorder that affects the autonomic control of breathing. Individuals with this condition typically experience respiratory arrest during sleep due to a failure of the autonomic nervous system to respond to elevated levels of carbon dioxide in the blood.

Pathophysiology

Undine's curse is primarily caused by mutations in the PHOX2B gene, which plays a crucial role in the development of the autonomic nervous system. The condition is characterized by a lack of automatic control over breathing, particularly during sleep, when voluntary control is diminished. This results in hypoventilation and an inadequate response to hypercapnia (elevated carbon dioxide levels) and hypoxemia (reduced oxygen levels).

Clinical Presentation

Patients with Undine's curse often present with symptoms shortly after birth. These may include:

• Cyanosis (bluish discoloration of the skin due to lack of oxygen)
• Apnea (temporary cessation of breathing)
• Difficulty in maintaining normal blood gas levels during sleep

In some cases, symptoms may not become apparent until later in childhood or even adulthood, particularly in milder forms of the disorder.

Diagnosis

The diagnosis of Undine's curse is typically confirmed through genetic testing for mutations in the PHOX2B gene. Additional diagnostic procedures may include:

• Polysomnography (sleep study) to assess breathing patterns during sleep
• Blood gas analysis to evaluate levels of oxygen and carbon dioxide

Management

Management of Undine's curse involves ensuring adequate ventilation, particularly during sleep. This may include:

• Positive airway pressure devices, such as CPAP or BiPAP
• Diaphragmatic pacing, which involves electrical stimulation of the diaphragm to facilitate breathing
• In severe cases, tracheostomy may be necessary to provide a secure airway for mechanical ventilation

Prognosis

With appropriate management, individuals with Undine's curse can lead relatively normal lives. However, lifelong monitoring and treatment are essential to prevent complications associated with hypoventilation.

Related pages

• Autonomic nervous system
• Sleep apnea
• Genetic disorder

Glass undine with box