ESPE Abstracts

Introduction: Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) syndrome is a rare and complex disease that mortality is due to hypothalamic dysfunction and respiratory arrest. The aimof the study is to present a case of a patient with ROHHAD syndrome.

Case Presentation: a 6-years old boy was consulted to Pediatrician OPC with obesity and snoring, starting in mid-2015. The patient was placid, lethargic and less feisty as of late. Physical examination: body weight: 23.5 kg (>P95th); height:95.3cm(P25th-P50th); BMI:25.8(>P95th); head circumference:50.7 cm (50th to 95th percentile). Both tonsils and adenoids were enlarged without hyperemic. Genitalia were normal, with both testes palpable bilaterally. The sleep study (Polysomnography) indicated mixed central and obstructive sleep apnea. Blood gas analysis (BGA): pCO2 52 and pH 7.3. MRI confirmed moderate adenoid hypertrophy. The patient had hypernatremia, the peak is 171, managed with iv corrections and dietary restrictions. There were elevated prolactin levels and altered thyroid hormone levels. The patient also experienced episodes of both hypothermia and hyperthermia, managed with environmental control and paracetamol. Patient prescribed a strict diet aim ed at reducing body weight, consisting of 1200kcal per day (80% RDA), high fiber, five servings of fruits and vegetables daily, avoiding sweets, and engaging in 45-60 minutes of daily exercise, particularly swimming. Screen time limited to one hour per day. Additionally, the patient is receiving levothyroxine for hypothyroidism and using CPAP with PEEP of 4-6 cmH20 during sleep. Fluid intake adjusted based on sodium levels. Patient followed up by outpatient clinic in pediatric endocrinology, respiratory and cardiology and checked his electrolyte serum every day with i-STAT handheld blood analyzer. ECG showed sinus bradycardia and holter study was performed. Adenotonsilectomy was performed by ENT surgeon in 2016. Patient currently maintains a median weight for their age and length, continuing levothyroxine treatment for hypothyroidism. Sodium levels are monitored weekly using iSTAT, and BPAP support is provided during sleep. Caloric intake remains at 1200 kcal per day (72% RDA), adhering to a strict diet and regular exercise regimen.

Conclusion: Patients with ROHHAD received treatment tailored to their symptoms, including a strict diet, exercise, hormone replacement therapy, sodium-based fluid restriction, and respiratory device support during sleep. Regular follow-ups are essential to ensure the patient's stability. Despite engaging in normal childhood activities, the patient remains at risk of cardiorespiratory attacks, and parents need to be educated about this possibility.