A 5 year old boy with obstructive sleep apnea (OSA) and chronic constipation presented with unsteady gait and an episode of fecal incontinence. Upon initial evaluation he had a temperature of 91.5 degrees Fahrenheit and a heart rate of 50 beats per minute. Exam revealed an obese child in no acute distress with waxing and waning respirations. The patient was warmed with a Bair Hugger, given intravenous fluids, placed on cardiac monitor and bilevel positive airway pressure. The incontinence and unsteadiness resolved and focus switched to a workup for hypothermia, bradycardia and obesity. Upon further questioning his mother reported that twice over the past week his temperature had been undetectable. She denied recent signs of infection including cough, rhinorrhea, chills or abdominal pain. He has had polyphagia, polydipsia and polyuria since his 4th birthday and his body mass index has risen from the 25th to 99th percentile. He has had trouble breathing since infancy characterized by shallow breaths, snoring and apnea and sleep studies have indicated OSA. Laboratory studies were notable for bicarbonate of 32 mEq/L, elevated prolactin, hypoxemia and a partial pressure of carbon dioxide of 62 mmHg. Thyroid studies and Cortrosyn stimulation test were normal. ACTH was low. Random blood glucose was 97 mg/dl. Urine and serum osmolarity were 368 and 306, respectively. Urine and blood cultures had no growth. Non‐contrast head computed tomography ruled out pituitary mass. Given the rapid onset of obesity, autonomic instability with hypothermia, hypoventilation, bradycardia and constipation, as well as evidence of hypothalamic abnormalities, Endocrinology was consulted and the diagnosis of Rapid Onset of Obesity, Hypothalamic dysregulation, Hypoventilation and Autonomic Dysfunction (ROHHAD) syndrome was made.
ROHHAD is a rare disease with less than 100 reported cases. Onset is in the first decade of life and it is characterized by hyperphagia/obesity, respiratory manifestations, thermal or hypothalamic dysregulation (failed growth hormone stimulation, hypernatremia, hyperprolactinemia, diabetes), ophthalmologic manifestations, gastrointestinal dysmotility, altered pain perception, neurobehavioral disorders and neural crest tumors. Initial symptom/s at presentation may be mistaken for a common entity without further investigation. In such situations there should be a low threshold for consulting Endocrinology. If not identified correctly treatment will likely be inadequate, in which case alveolar hypoventilation can cause significant morbidity/mortality. Cardiopulmonary arrest rates may be as high as 60%.
Although rare, physicians should be suspicious of ROHHAD in children presenting with rapid‐onset obesity, endocrine abnormalities or evidence of autonomic dysfunction such as temperature dysregulation, gastrointestinal dysmotility or hypoventilation.