title: Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia.
abstract: BACKGROUND
  Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases characterized by lysosomal accumulation of autofluorescent material in neurons and other cell types. The infantile NCL (INCL) subtype is rare (1 in >100,000 births), the most devastating of childhood subtypes, and is caused by mutations in the gene CLN1, which encodes palmitoyl-protein thioesterase-1.
  
  
  METHODS
  To investigate the incidence of hypothermia and bradycardia during general anesthesia in patients with INCL, we conducted a case-control study to examine the perianesthetic course of patients with INCL and of controls receiving anesthesia for diagnostic studies.
  
  
  RESULTS
  Eight children with INCL (mean age 25 mo [range, 10-32] at first anesthetic) and 25 controls (mean age 44 mo [range, 18-92]) underwent 62 anesthetics for nonsurgical procedures. Patients with INCL had neurologic deficits including developmental delay, myoclonus, and visual impairment. Patients with INCL had lower baseline temperature (36.4 +/- 0.1 vs 36.8 +/- 0.1, INCL versus controls, P < 0.007), and during anesthesia, despite active warming techniques, had significantly more hypothermia (18 vs 0 episodes, P < 0.001) and sinus bradycardia (10 vs 1, P < 0.001) compared with controls. INCL diagnosis was significantly associated with temperature decreases during anesthesia (P < 0.001), whereas age, sex, and duration of anesthesia were not (P = NS).
  
  
  CONCLUSIONS
  We report that patients with INCL have lower baseline body temperature and during general anesthesia, despite rewarming interventions, are at increased risk for hypothermia and bradycardia. This suggests a previously unknown INCL phenotype, impaired thermoregulation. Therefore, when anesthetizing these children, careful monitoring and routine use of warming interventions are warranted.
authors.affiliation: Department of Anesthesia and Surgical Services, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, Maryland 20892-1512, USA.
authors.forename: Ning
authors.initials: N
authors.lastname: Miao
authors.forename: Sondra W
authors.initials: SW
authors.lastname: Levin
authors.forename: Eva H
authors.initials: EH
authors.lastname: Baker
authors.forename: Rafael C
authors.initials: RC
authors.lastname: Caruso
authors.forename: Zhongjian
authors.initials: Z
authors.lastname: Zhang
authors.forename: Andrea
authors.initials: A
authors.lastname: Gropman
authors.forename: Deloris
authors.initials: D
authors.lastname: Koziol
authors.forename: Robert
authors.initials: R
authors.lastname: Wesley
authors.forename: Anil B
authors.initials: AB
authors.lastname: Mukherjee
authors.forename: Zenaide M N
authors.initials: ZM
authors.lastname: Quezado
mesh_terms: D000758:Anesthesia / Q000009:adverse effects*; D000777:Anesthetics; D001831:Body Temperature / Q000187:drug effects; D001919:Bradycardia / Q000453:epidemiology* / Q000209:etiology; D016022:Case-Control Studies; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007035:Hypothermia / Q000453:epidemiology* / Q000209:etiology; D007223:Infant; D007431:Intraoperative Complications / Q000453:epidemiology*; D008297:Male; D016343:Monitoring, Intraoperative; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications* / Q000503:physiopathology; D017694:Rewarming; D018570:Risk Assessment
chemical_list: D000777:Anesthetics