Hypocretin Deficiency Associated with Narcolepsy Type 1 and Central Hypoventilation Syndrome in Neurosarcoidosis of the Hypothalamus

J Clin Sleep Med. 2015 Sep 15;11(9):1063-5. doi: 10.5664/jcsm.5028.

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.

Keywords: hypocretin; hypothalamus; narcolepsy; neurosarcoid; orexin.

Publication types

  • Case Reports

MeSH terms

  • Central Nervous System Diseases / cerebrospinal fluid
  • Central Nervous System Diseases / complications*
  • Humans
  • Hypothalamic Diseases / cerebrospinal fluid
  • Hypothalamic Diseases / complications*
  • Hypothalamic Diseases / physiopathology
  • Hypothalamus / physiopathology
  • Hypoventilation / cerebrospinal fluid
  • Hypoventilation / complications
  • Hypoventilation / congenital*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Narcolepsy / cerebrospinal fluid
  • Narcolepsy / complications*
  • Orexins / cerebrospinal fluid
  • Orexins / deficiency*
  • Sarcoidosis / cerebrospinal fluid
  • Sarcoidosis / complications*
  • Sleep Apnea, Central / cerebrospinal fluid
  • Sleep Apnea, Central / complications*

Substances

  • Orexins

Supplementary concepts

  • Congenital central hypoventilation syndrome
  • Narcolepsy 1
  • Neurosarcoidosis