ESPE Abstracts

Background: The rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) is a long-known rare condition with a high morbidity and mortality rate, and still unknown etiology.

Objective: We aim to present the clinical findings and treatment in a patient with ROHHAD syndrome.

Case presentation: A 4-year-old girl had normal development until March 2022 when rapidly progressing weight gain of 13 kilograms in less than 8 months began due to hyperphagia. The parents also noticed behavioral changes in the child including irritability and aggression, loss of acquired motor skills, fatigue with significant daytime sleepiness, hypodipsia and oliguria. In December 2022 the girl was hospitalized due to continuous central hyperthermia up to 42 °C lasting for more than 2 weeks prior to admission, without elevated inflammatory markers and with a normal brain CT scan. The patient was referred to our paediatric endocrine center for further investigations. At the admission she was severely obese, tachypneic and tachycardic, without cyanosis or signs of sleep apnea, showing deterioration in the expressive speech and gait disturbance with instability. She was continuously febrile and the laboratory investigations showed anemia, hypoxemia and compensated respiratory acidosis, central hypothyroidism and hyperprolactinemia, sodium dysregulation and low-normal IGF-1. The imaging findings (abdominal and heart US, brain MRI) were insignificant. Karyotype was normal, and there were no pathological findings in MLPA and single WES. The combination of rapid-onset obesity, hypothalamic dysfunction and autonomic dysregulation was compatible with the ROHHAD(NET) syndrome. After a CPMS Endo-ERN consultation of the patient we performed a whole-body DOTA-NOC PET-scan in order to screen her for neural crest tumors but the imaging test was negative for solid tumors or lymphadenopathy. We initiated treatment with oxygen, Levothyroxine, Bromocriptine, dietary regimen and intravenous infusion of electrolytes. Lumber puncture for additional investigation could not be performed, and 33 days after the admission the patient was transferred to the PICU for mechanical ventilation and parenteral infusions with Rituximab as the fever was constantly above 39.8°C. However, one week later the girl had consecutive episodes of cardiorespiratory arrest leading to fatal outcome.

Conclusion: ROHHAD/NET syndrome is a complex condition with unspecific diagnostic tests and yet to be revealed etiology. A high suspicion is warranted in patients with rapid early-onset obesity and hypothalamic dysfunction without structural pituitary abnormality. The possibility to receive medical support and guidance through the CPMS tool of the European Rare Diseases Networks is a practice-changing opportunity.