Late-onset central hypoventilation with hypothalamic dysfunction: A distinct clinical syndrome

Cyclophosphamide for Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome

“…The patient was treated with cyclophosphamide, 750 mg/m 2 /dose every 28 days for 6 doses; intravenous immunoglobulin, 1g/kg/dose every 28 days for 8 doses and then every 56 days for 2 additional doses; and prednisone, 2 mg/kg/day for 28 days, followed by a 20-week-long taper. Five weekly doses of rituximab, 375 mg/m 2 /dose, were added based on previous reports of failure of conventional dose immunosuppression 4,5 and the utility of this agent in OMA. 11 …”

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report

“…At this stage, the decisive clinical recognition of ROHHAD could be lifesaving and could prevent the patient from dramatic consequences due to the severity of clinical manifestations. ROHHAD syndrome is considered a life-threatening medical condition with death occurring around the average chronological age of 10 [11]. Of children with ROHHAD, 25% are reported to die because of respiratory failure [6].…”

“…Other features in one subset of patients may include behavioral disorders, developmental disorders, intellectual impairment, and seizures which need to be closely evaluated to be sure that episodes are not related to hypoxemia or hypernatremia [8–10]. Approximately 35% of patients with ROHHAD have neural crest tumors (ganglioneuroblastomas and ganglioneuromas) in the chest or abdomen at a median of 2.4 years interval following the onset of hypothalamic dysfunction [11]. The modified acronym ROHHAD-NET (ROHHAD-neuroendocrine tumor) is used when a neural crest tumor is present [3].…”

A Newborn with Cyanosis and a Young Child with Hypoventilation

“…Some cases may not present until late childhood, and a few present in adulthood. 6,7 The diagnosis of CCHS depends on exclusion of other causes of hypoventilation such as brainstem malformation, inborn errors of metabolism, myopathy, diaphragmatic paralysis, lung or respiratory pump abnormalities. PSG with end-tidal PCO 2 monitoring usually reveals high end-tidal PCO 2 and low tidal volume ( Figure P75-1).…”