Hypocretin-1 deficiency in a girl with ROHHAD syndrome.
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare and complex pediatric syndrome, essentially caused by dysfunction of 3 vital systems regulating endocrine, respiratory, and autonomic nervous system functioning. The clinical spectrum of ROHHAD is broad, but sleep/wake disorders have received relatively little attention so far, although the central hypothalamic dysfunction would make the occurrence of sleep symptoms likely. In this case report, we expand the phenotype of ROHHAD with a number of striking sleep symptoms that together can be classified as a secondary form of narcolepsy. We present a 7-year-old girl with ROHHAD who displayed the classic features of narcolepsy with cataplexy: excessive daytime sleepiness with daytime naps, visual hallucinations, and partial cataplexy reflected in intermittent loss of facial muscle tone. Nocturnal polysomnography revealed sleep fragmentation and a sleep-onset REM period characteristic for narcolepsy. The diagnosis was confirmed by showing an absence of hypocretin-1 in the cerebrospinal fluid. We discuss potential pathophysiological implications as well as symptomatic treatment options.
Pediatric Sleep Centre, Centre for Neurophysiological Monitoring Unit, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium. karlien.dhondt@ugent.be
Karlien
K
Dhondt
Patrick
P
Verloo
Hélène
H
Verhelst
Rudy
R
Van Coster
Sebastiaan
S
Overeem
D002648:Child; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006323:Heart Arrest / Q000209:etiology; D006801:Humans; D007027:Hypothalamic Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D007040:Hypoventilation / Q000175:diagnosis*; D047908:Intracellular Signaling Peptides and Proteins / Q000134:cerebrospinal fluid / Q000172:deficiency*; D009290:Narcolepsy / Q000175:diagnosis*; D009479:Neuropeptides / Q000134:cerebrospinal fluid / Q000172:deficiency*; D009765:Obesity / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D000068797:Orexins; D017286:Polysomnography; D011629:Puberty, Precocious / Q000134:cerebrospinal fluid / Q000175:diagnosis; D020182:Sleep Apnea, Central / Q000134:cerebrospinal fluid / Q000175:diagnosis; D012893:Sleep Wake Disorders / Q000134:cerebrospinal fluid / Q000175:diagnosis
C000596229:HCRT protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins
cataplexy; hypocretin; narcolepsy; orexin