ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge

Area of Science:

• Pediatric Endocrinology
• Neurology
• Sleep Medicine

Background:

• Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) syndrome is a rare condition.
• While typically associated with rapid-onset obesity, a subset of patients present with ROHHAD syndrome without obesity.
• The prevalence and characteristics of this non-obese variant are not well-defined.

Purpose of the Study:

• To describe the clinical presentation and outcomes of ROHHAD syndrome without rapid-onset obesity.
• To highlight the diagnostic challenges and implications for patient prognosis.

Main Methods:

• A retrospective, observational, multicenter study was conducted.
• Data from all diagnosed cases of ROHHAD without rapid-onset obesity in France between 2000 and 2020 were analyzed.

Main Results:

• Four patients were identified with a median age at diagnosis of 8 years 10 months and a median BMI of 17.4 kg/m².
• Autonomic dysfunction and hypothalamic disorders preceded sleep apnea and hypoventilation, which led to diagnosis.
• Treatments included ventilatory support, hormone replacement, and psychotropic medication; one patient died, while three were followed for a median of 7.4 years.

Conclusions:

• ROHHAD syndrome without rapid-onset obesity is a distinct entity that typically presents later than the obese form.
• It should be considered in cases of dysautonomia or unexplained hypothalamic syndrome, necessitating sleep studies.
• Early identification is crucial for managing this challenging clinical diagnosis and improving patient prognosis.