Undine (medical)

Glass undine with box

Undine's Curse, also known as Congenital Central Hypoventilation Syndrome (CCHS), is a rare genetic disorder that affects the autonomic control of breathing. Characterized by the inability to control breathing automatically, individuals with Undine's Curse must consciously remind themselves to breathe, especially during sleep, leading to a risk of severe respiratory arrest.

Overview

Congenital Central Hypoventilation Syndrome (CCHS) is caused by mutations in the PHOX2B gene, which plays a crucial role in the development of the autonomic nervous system. This condition is typically diagnosed in newborns, although milder cases may not be identified until later in childhood or even in adulthood. The severity of CCHS can vary widely among individuals.

Symptoms

The primary symptom of CCHS is an abnormal control of breathing. Affected individuals may breathe normally while awake, but fail to increase their breathing rate in response to increased carbon dioxide levels or decreased oxygen levels in the blood. This can lead to episodes of hypoxemia (low blood oxygen) and hypercapnia (high blood carbon dioxide), especially during sleep. Other symptoms may include difficulty waking up, heart rate abnormalities, constipation, and temperature regulation issues.

Diagnosis

Diagnosis of CCHS typically involves a combination of clinical evaluation, genetic testing for mutations in the PHOX2B gene, and monitoring of breathing and oxygen levels, particularly during sleep. Polysomnography, a comprehensive sleep study, is often used to assess the extent of the breathing dysfunction.

Treatment

Treatment for CCHS is lifelong and focuses on managing the breathing difficulties. During sleep, affected individuals may require the use of mechanical ventilation to ensure adequate oxygenation and carbon dioxide removal. Options include positive pressure ventilation through a mask or tracheostomy. In some cases, diaphragm pacing, which electrically stimulates the diaphragm to contract, may be used. Regular follow-up with healthcare providers is essential to monitor the condition and adjust treatment as necessary.

Prognosis

With appropriate treatment and management, individuals with CCHS can lead relatively normal lives. However, they are at a constant risk of life-threatening respiratory complications, especially if the ventilatory support is not used correctly or consistently.

Epidemiology

CCHS is a very rare condition, with an estimated incidence of 1 in 200,000 live births. Both males and females are equally affected.

History

The term "Undine's Curse" originates from the myth of Undine, a water nymph who gains a soul by marrying a human but is cursed to die if her husband is unfaithful to her. In the medical context, it metaphorically refers to the potentially fatal nature of the condition if continuous attention to breathing is not maintained.