RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164068830
T1 Elejalde Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164068830
RD 2024/04/20
AB It  is  an  extremely  rare  inherited  disorder  characterized  by  metallic  silvery  hair  color,  moderate  pigment  abnormalities  of  the  skin,  and  early-onset  profound  primary  central  nervous  system  dysfunctions.  Elejalde  Syndrome  manifests  during  infancy.  The  onset  of  the  neurologic  signs  has  been  reported  between  1  month  and  11  years  of  age.  The  neurological  features  include  severe  developmental  delay,  seizure  activity,  exotropia,  nystagmus,  and  ataxia.  In  comparison  with  the  Griscelli  Syndrome  Type  II  and  Chediak-Higashi  Syndrome,  individual  affected  with  Elejalde  Syndrome  do  not  present  immune  system  dysfunctions  (see  below).