Sleep disordered breathing features, evolution and management of a patient with Rohhad Syndrome.

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INTRODUCTION: ROHHAD syndrome (rapid-onset obesity, hypothalamic dysregulation, hypoventilation and autonomic dysregulation), is a condition of unknown etiology with only about 100 cases reported worldwide, and a high mortality from alveolar hypoventilation. CASE PRESENTATION: A male patient was diagnosed at age six with ROHHAD syndrome, with features of morbid obesity, diabetes insipidus, hyperprolactinemia, hypogonadism, neuroganglioma and multiple respiratory abnormalities including central alveolar hypoventilation, restrictive lung disease (RLD) and obstructive sleep apnea (OSA). At age ten his weight was 103 kg and neck circumference 41 cm. Spirometry showed mild restrictive pattern and polysomnography (PSG) revealed moderate sleep apnea. Direct laryngoscopy was unrevealing. He was started on nocturnal volume and pressure control ventilator with average volume assured pressure support (PC/AVAPS) at 20 breaths/minute (RR), AVPAS rate: 2, maximum inspiratory pressure (MaxIP): 24cmH2O, minimum inspiratory pressure (MinIP) 16cmH2O, tidal volume (TV): 580 cc and end-expiratory pressure (e-EP) 8cmH2O. He continued to gain weight and his functional status declined due to multiple hospitalizations and the nature of the disease. Most recently, at age 19, his weight was 193 kg and NC of 43 cm. His studies showed progression to moderate RLD and severe OSA. Neuromuscular assessment revealed Max IP at -93cmH20 and e-EP of 34cmH2O, suggestive of alveolar hypoventilation and ineffective cough. He has required multiple titrations of his NIV settings, currently: PC/AVAPS mode, RR 16, TV 1200 ml, AVAPS Rate 4, Max IP 36 cmH20, MinIP 18 cmH20, EPAP 14 cmH20, with Auto-Trak and a full-face mask. To date, he continues to be on this regimen for 10 hours at night along with levalbuterol nebulizations as needed. DISCUSSION: ROHHAD syndrome begins with rapid weight gain during early childhood followed by respiratory abnormalities. Endocrine and autonomic disturbances are required to make a diagnosis. Early diagnosis and treatment are imperative. Unfortunately, this remains a progressive, incurable condition with an average survival of 10 years from time from diagnosis. The novelty of this case is that the patient has survived 13 years thus far. We firmly believe that this is in part to the patient’s intense pulmonary and neuromuscular rehabilitation program and to the modality of NIV. By using AVAPS we have avoided the need for 24-hour NIV and tracheostomy (which up to 80% of patients require) as well as the development of pulmonary hypertension. CONCLUSIONS: ROHHAD syndrome requires a multidisciplinary approach along with an aggressive hypoventilation management. AVAPS improves ventilation and delays or may even prevent the need for surgical airway. Additionally, behavioral interventions, NIV titration, oxygen saturation above 95% and CO2 levels between 35-45 mmHg are measures that also seem to render a better prognosis.




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