Idiopathic hypothalamic dysfunction and impaired control of breathing

Hayek and Peake described a syndrome of hypothalamic dysfunction consisting of obesity, hypodipsia, recurrent hypernatremia, hyperprolactinemia, and hypothyroidism without evidence of a structural hypothalamic lesion. We report two additional children with this syndrome of hypothalamic dysfunction, both of whom also had central hypoventilation syndrome. The concurrence of hypothalamic dysfunction and central hypoventilation syndrome suggests that common pathophysiologic mechanisms may be involved. The future study of additional patients may help in determining the fundamental cause of the endocrine and respiratory dysfunction.