title: Cataplectic facies: clinical marker in the diagnosis of childhood narcolepsy-report of two cases.
abstract: BACKGROUND
  Narcolepsy is a chronic disease and is commonly diagnosed in adulthood. However, more than half of the patients have onset of symptoms in childhood and/or adolescence. The full spectrum of clinical manifestations, namely excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis, is usually not present at disease onset, delaying diagnosis during childhood. Mean delay in diagnosis since symptom onset is known to be several years. Initial manifestations can sometimes be as subtle as only partial drooping of eyelids leading to confusion with a myasthenic condition.
  
  
  METHODS
  We present two children who presented with "cataplectic facies," an unusual facial feature only recently described in children with narcolepsy with cataplexy.
  
  
  RESULTS
  The diagnosis of narcolepsy was confirmed by multiple sleep latency test along with human leukocyte antigen typing and cerebrospinal fluid hypocretin assay.
  
  
  CONCLUSIONS
  The diagnosis of narcolepsy with cataplexy at onset can be challenging in young children. With more awareness of subtle signs such as cataplectic facies, earlier diagnosis is possible. To date, only 11 children between 6 and 18 years of age presenting with typical cataplectic facies have been reported in the literature. We present two patients, one of whom is the youngest individual (4 years old) yet described with the typical cataplectic facies.
authors.affiliation: Department of Paediatrics, Pinderfield General Hospital, Wakefield, UK. Electronic address: m.prasad@nhs.net.
authors.forename: Manish
authors.initials: M
authors.lastname: Prasad
authors.affiliation: Department of Paediatrics, Horton General Hospital, Banbury, UK.
authors.forename: Gururaj
authors.initials: G
authors.lastname: Setty
authors.affiliation: Department of Clinical Neurophysiology, Sheffield Children's Hospital, Sheffield, UK.
authors.forename: Athi
authors.initials: A
authors.lastname: Ponnusamy
authors.affiliation: Department of Paediatric Neurology, Leicester Royal Infirmary, Leicester, UK.
authors.forename: Nahin
authors.initials: N
authors.lastname: Hussain
authors.affiliation: Department of Paediatric Neurology, Sheffield Children's Hospital, Sheffield, UK.
authors.forename: Archana
authors.initials: A
authors.lastname: Desurkar
mesh_terms: D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D006680:HLA Antigens / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000134:cerebrospinal fluid; D008297:Male; D009290:Narcolepsy / Q000175:diagnosis* / Q000503:physiopathology; D009479:Neuropeptides / Q000134:cerebrospinal fluid; D000068797:Orexins; D017286:Polysomnography
chemical_list: D006680:HLA Antigens; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins
keywords: Multiple sleep latency test (MSLT); cataplexy; childhood; hypocretin; narcolepsy