Abstract

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) syndrome is a rare, life threatening disease with unknown etiology. Dysnatremia is a common finding in these patients. Here we present a 12-year-old boy with multiple admissions due to hypernatremia and was repeatedly misdiagnosed. An eventual diagnosis of ROHHAD syndrome was made by integration of the previous ignored findings of sleep apnea and obesity. The diagnosis of this rare but potentially fatal syndrome should be considered in patients with dysnatremia associated with obesity and sleep apnea disorders.

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