Primary Alveolar Hypoventilation Syndrome (Ondine's Curse)

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Abstract
THIS PAPER REPORTS a case of alveolar hypoventilation associated with presumptive evidence of hypothalamic disease. Primary alveolar hypoventilation syndromes have been reported in adults and children, presumably secondary to brain stem disease3-16and to obesity in adults17-27and children.28-32To our knowledge, alveolar hypoventilation in patients with clinical evidence of hypothalamic disease has not been reported. Report of a Case First Admission.—A 3½-year-old white male (Fig 1,AandB) was in good health until nine months prior to admission, when he developed a voracious appetite and lethargy. During the following nine months he gained 23 lb (10.4 kg) and gradually became less active and was disinterested in play. He began to stutter and had "twitching spells," sometimes associated with mild cyanosis. Six months prior to admission he was treated with thyroid extract, 30 mg per day, because of the presumed diagnosis of thyroid deficiency based

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