RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164067547
T1 De Morsier 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=1164067547
RD 2024/04/19
AB It  is  a  rare  genetic  medical  condition  characterized  by  a  triad  of  optic  nerve  hypoplasia,  structural  brain  abnormalities,  and  hypothalamic/pituitary  deficiencies.  To  establish  the  diagnosis,  two  of  the  three  features  must  be  present.  All  three  are  only  present  in  30%  of  affected  individuals.  Neuroradiologically,  this  syndrome  is  defined  by  agenesis  of  the  interhemispheric  septum  pellucidum,  schizencephaly,  hydranencephaly,  and  holoprosencephaly.  Clinically,  other  important  features  include  mild  to  severe  developmental  delay,  seizures,  visual  impairment,  sleep  disturbance,  precocious  puberty,  microgenitalia  (especially  in  males),  obesity,  anosmia,  sensorineural  hearing  loss,  and  cardiac  anomalies.