ROHHAD syndrome is a rare syndrome with rapid-onset obesity (RO), hypoventilation (H), hypothalamic (H), and autonomic dysfunction (AD). Rapid weight gain usually begins after the age of 2-3, while hypoventilation occurs in more advanced age. We report the case of a patient who developed hypoventilation at very early age and subsequently obesity, and was diagnosed at the age of 1.5 years.
A male patient developed progressive neurologic deterioration and epilepsy following hypoxic encephalopathy due to sudden respiratory arrest at five months old. At the age of 1.5, he was evaluated for sudden-onset obesity which occurred in the last few months. He received treatment for constipation as well as epilepsy. The weight was 15 kg (+1.4 SD), height 82 cm (-1.0 SD), and BMI 22.3 kg/m2 (+3.1 SD). Spontaneous breath rate and heart rate were varying between 6-10/min and 45-55/min, respectively. The patient was spastic quadriplegic and had no pupillary reflex. Brain MRI revealed cortical and white matter atrophy. Laboratory values were as follows: serum Na 150 mEq/L, serum osmolality 310 mOsm/kg and urine osmolality 101 mOsm/kg, serum adrenocorticotropic hormone <5 pg/mL, and cortisol 1.01 μg/dL. Other pituitary functions were normal. Treatment with desmopressin and hydrocortisone was initiated for central diabetes insipidus and adrenal insufficiency. All the findings (obesity, pituitary hormone deficiencies, hypoventilation, bradycardia, absence of pupillary reflex, constipation) indicated diagnosis of ROHHAD syndrome.
ROHHAD syndrome should be kept in mind in children with rapid-onset obesity and pituitary hormone deficiencies. These children should be monitored in terms of accompanying findings such as hypoventilation and autonomic dysfunction.