title: Hypocretin Deficiency Associated with Narcolepsy Type 1 and Central Hypoventilation Syndrome in Neurosarcoidosis of the Hypothalamus.
abstract: We report a case of a 53-year-old man presenting with depressed alertness and severe excessive sleepiness in the setting of neurosarcoidosis. Neuroimaging demonstrated hypothalamic destruction due to sarcoidosis with a CSF hypocretin level of 0 pg/mL. The patient also experienced respiratory depression that presumably resulted from hypocretin-mediated hypothalamic dysfunction as a result of extensive diencephalic injury. This is a novel case, demonstrating both hypocretin deficiency syndrome, as well as respiratory dysfunction from destruction of hypocretin neurons and extensive destruction of key diencephalic structures secondary to the underlying neurosarcoidosis.
authors.affiliation: Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA.
authors.forename: Mary Catherine
authors.initials: MC
authors.lastname: Mayo
authors.affiliation: Division of Pulmonary and Critical Care Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA.
authors.forename: Jane C
authors.initials: JC
authors.lastname: Deng
authors.affiliation: Division of Pulmonary and Critical Care Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Albores
authors.affiliation: Division of Pulmonary and Critical Care Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA.
authors.forename: Michelle
authors.initials: M
authors.lastname: Zeidler
authors.affiliation: Department of Neurobiology, David Geffen School of Medicine at UCLA, Los Angeles, CA.
authors.forename: Ronald M
authors.initials: RM
authors.lastname: Harper
authors.affiliation: Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA.
authors.forename: Alon Y
authors.initials: AY
authors.lastname: Avidan
mesh_terms: D002493:Central Nervous System Diseases / Q000134:cerebrospinal fluid / Q000150:complications*; D006801:Humans; D007027:Hypothalamic Diseases / Q000134:cerebrospinal fluid / Q000150:complications* / Q000503:physiopathology; D007031:Hypothalamus / Q000503:physiopathology; D007040:Hypoventilation / Q000134:cerebrospinal fluid / Q000150:complications / Q000151:congenital*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009290:Narcolepsy / Q000134:cerebrospinal fluid / Q000150:complications*; D000068797:Orexins / Q000134:cerebrospinal fluid / Q000172:deficiency*; D012507:Sarcoidosis / Q000134:cerebrospinal fluid / Q000150:complications*; D020182:Sleep Apnea, Central / Q000134:cerebrospinal fluid / Q000150:complications*
chemical_list: D000068797:Orexins
keywords: hypocretin; hypothalamus; narcolepsy; neurosarcoid; orexin