Rare congenital failure of autonomic control of
breathing during sleep. Other features include Hirschsprung disease and
reduced esophageal motility.
Congenital Central Hypoventilation Syndrome (CCHS);
Ondine-Hirschsprung Disease; Ondine Curse.
The name of this syndrome originates from Old German
mythology about the water nymph Ondine (Undine). Nymphs are known to be very
beautiful, and Ondine was certainly no exception. Nevertheless, she was very
wary of men because they are a threat to a nymph's immortality. Whenever a
nymph falls in love with a man, she loses her immortality and begins to age
and eventually dies. However, all this was forgotten when Ondine discovered
Sir Huldbrecht, a young knight, near her lily pond. Sir Huldbrecht, too, was
captured by Ondine's beauty, and soon the two fell in love and married. From
this very moment, however, Ondine started to age. Her stunning beauty slowly
fading away, Sir Huldbrecht soon found himself looking for a younger and
prettier woman. One afternoon, Ondine caught Sir Huldbrecht happily in the
arms of a young woman. Having sacrificed her immortality for this man who
had sworn love and faithfulness to her, Ondine demanded retaliation. With
her magic still powerful enough for vengeance, she cursed Sir Huldbrecht:
“As long as you are awake, you shall have your breath, however, as soon as
you fall asleep, your breath will be taken from you!” It didn't take long
until Sir Huldbrecht fell asleep from exhaustion and died shortly
thereafter. This myth illustrates the problem of the patient suffering from
congenital central hypoventilation.
Autosomal recessive or autosomal dominant with
reduced penetrance (or paternal gonadal mosaicism).
Probable anomaly of integration in the central nervous system (CNS) of
afferent stimuli from peripheral chemoreceptors. The resulting
hypoventilation is most pronounced during sleep, with relative insensitivity
to hypercarbia and a lesser insensitivity to hypoxia. The frequent
association of CCHS with Hirschsprung disease led to the hypothesis that it
could be a form of neural crest disease.
Polysomnographic recordings show decreased minute
ventilation during sleep with hypoxemia and hypercarbia. Acquired causes of
alveolar hypoventilation should be excluded: CNS infection, metabolic
disease, cerebral or brainstem malformation, myotonic dystrophy.
Breathing is usually normal when awake but marked
hypoventilation occurs during sleep: respiratory rate slows down to 8 to 10
breaths per minute with long pauses. Onset is usually in the first days or
weeks after birth, but precise diagnosis is often delayed. Frequent
association with Hirschsprung disease (13-26%), ocular anomalies
(66%), or anomalies of the autonomic cardiac control (44%). May have
distinctive facies: low-set ears, small nose, triangular mouth,
down-slanting palpebral fissures. Inappropriate secretion of antidiuretic
hormone (ADH) has been described in a few cases. The incidence of
neuroblastoma or ganglioneuroma is higher than in a control population.
Pulmonary hypertension and cor pulmonale occur if sleep-induced
hypoventilation is not corrected. Treatment occurs at home with positive-pressure ventilation during sleep via a tracheostomy during infancy and