A newborn with Hirschsprung's disease in the neonatal intensive care unit presents with respiratory failure. ABGs show a mildly elevated PaCO2 during wakefulness and markedly elevated PaCO2 during non-REM sleep. He seems to forget to breathe when sleeping. You test him with inhalation of CO2 and he has no respiratory discomfort.Challenge: What's your diagnosis?
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Unfaithful Mortals
The painting is Undine by John William Waterhosue referring to the myth of Ondine, an immortal water nymph. If a water nymph falls in love with a mortal and bears his child, she loses her immortality. Of course, Ondine falls in love with a handsome knight, Sir Lawrence. They marry, Sir Lawrence vows to love her forever, and she bears his child. Losing her immortality, she begins to age. Sir Lawrence loses interest in her and has an affair with another woman. Ondine catches him and curses him, "You swore faithfulness to me with every waking breath, and I accepted your oath...As long as you are awake, you shall have your breath, but should you ever fall asleep, then that breath will be taken from you and you will die!"
Ondine's curse is also known as congenital central hypoventilation syndrome. Patients have alveolar hypoventilation due to impaired autonomic control but their voluntary control is normal; thus, they "forget to breathe" when they fall asleep. They have nearly absent respiratory responses to hypoxia and hypercapnea. There is an association with Hirschsprung's disease, neuroblastoma, and ganglioneuroma.
Sources: UpToDate; Wikipedia.
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