Delayed Diagnosis of ROHHAD Syndrome, Masked by anEating Disorder

ROHHAD syndrome is a rare condition characterized by Rapid-onset Obesity, Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation. We present a 14-year old girl who presented following a seizure and short resuscitation. Past medical history included central hypothyroidism, previously treated precocious puberty, short stature, celiac disease and strabismus.

On physical examination: Height-139cm(<3%ile), Weight-36kg, BMI-19.2(48%ile).

On arrival she was hypothermic (32.3°C) and severely hyponatremic (118mmol/L) due to SIADH. This transitioned gradually to DI with sodium rising to 159, which responded well to treatment with DDAVP. Further workup revealed a prepubertal child with hormonal profile consistent with hypogonadotropic hypogonadism.

During her hospitalization she presented autonomic dysregulation; asymptomatic bradycardia and thermoregulation dysfunction, with frequent hypothermic episodes, and hypercapnia. Sleep study was compatible with central hypoventilation which required BPAP.

Further history revealed rapid-onset obesity from age 2.5 years (from 5 to 97%ile in only 3 months), and obesity throughout the age of 10 years. The clinical picture led to the diagnosis of ROHHAD which was challenged by her current normal BMI.

Apparently, at the age of 10 years, following a prediabetic state and dietitian consultation she had started a strict restrictive diet consisting of a single daily meal of vegetables and obsessive exercise, 1 hour a day, which would normally lead to severe underweight, but in this context led to an average weight child.

Conclusion:This case shows how an uncommon condition as ROHHAD can still be masked by an undiagnosed eating disorder, preventing the severe obesity and delaying prompt and correct diagnosis and treatment.