Ondine's curse

The Undine 's syndrome, Ondine 's syndrome or congenital central hypoventilation syndrome is a rare congenital disorder of the central nervous system, in which lack the normal autonomic breathing control or is disturbed.

In sleep medicine, the " Congenital central alveolar hypoventilation syndrome " as a part of sleep disorder to "sleep disordered breathing " and is according to ICD -10-GM as " congenital central alveolar hypoventilation syndrome " encoded with G47.32.

Dissemination

It affects about one in 200,000 live births.

Cause

In particular, this is a disorder of the central CO2 chemoreceptor sensitivity (decreased CO2 response). The ventilatory response of a child with Undine 's syndrome to a low oxygen saturation ( hypoxia) or a carbon dioxide increase in the blood ( hypercapnia ) is typically limited in the waking state, but often still sufficiently available.

In rare cases is as in Hirschsprung 's disease before a developmental disorder in the autonomic nervous system that is caused by genetic defects (growth factor BDNF, endothelin -3).

Clinical manifestations

In the otherwise not affected newborn appears the lack of spontaneous breathing or inadequate, shallow breathing falls on. This is in sleep more pronounced than in the waking state and can be interrupted by episodes with normal breathing. During hypoventilation phases and especially in deep sleep, it can lead to life-threatening conditions.

Most Undine children breathe superficially, but largely sufficient during the waking state. In the bedroom or additional diseases it comes in varying degrees to reduce the necessary ventilatory response, so they must be ventilated during sleep at least.

Approximately 25% of Undine Children additionally suffer from " Hirschsprung's disease ", a congenital malformation of the intestine, rarely to other coexisting conditions (eyes, hearing impairment, brain, seizures, cardiac arrhythmias, right heart failure, etc.).

Treatment

About 17% of Undine children breathe not sufficient even during the waking state, so they must be ventilated 24 hours a day. Many of these children are provided with a " diaphragmatic pacemaker ", allowing for mobile.

Prognosis

By modern ventilation and monitoring capabilities in the home Undine children can lead a full and productive life today. It was shown in a study in 94 Undine children in North America only recently that 77.5 % of children rendered normal academic performance. Prerequisite for this is the earliest possible diagnosis of the disease and the care and training of parents and caregivers with the latest equipment and information. Since the diagnosis and treatment options of this disease are only relatively shortly known and available, the oldest Undine patients but also mid 30's are about early twenties, occasionally you can work and even have children.

Origin of name

The first description of the syndrome occurred in 1962 by Severinghaus and Mitchell. Undine is the name of several occurring in the word water creatures. Friedrich de la Motte Fouqué, inspired by it, published in 1811 a fairy tale of the same name ( Undine ), in which the mermaid Undine kills the unfaithful her knight with a kiss. For this substance Jean Giraudoux developed in 1939 his play Ondine, which he enclosed with the theme of failing physiological automatism. Another modification relates that Undine had cursed her unfaithful husband to the fact that he could no longer breathe during sleep. This version led to the English term Ondine 's curse, Undine's curse.

Occurrence in art and literature

• In the movie " The Black Widow " (1987), the Undine 's syndrome is given as a cause of death of a Mafioso.
• At the beginning of the thriller " The Eye Collector " by Sebastian Fitzek (2010 ), the syndrome mentioned by name, and explains its name based on the play by Giraudoux explained; However, the issue is there attributed incorrectly to the Germanic mythology.
• The Polish Short Film Nasza Klątwa (Our curse ) tells the autobiographical story of a young family whose child is diagnosed with the Undine syndrome.