RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164087194
T1 Urbach-Wiethe Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164087194
RD 2024/04/19
AB A  congenital  lipoid  storage  disease  with  multiple  tissue  infiltrations  producing  waxiness  and  thickening  of  the  skin  and  mucous  membranes  of  the  mouth,  pharynx,  larynx,  and  hypopharynx.  It  causes  hoarseness  and  an  inability  to  cry,  often  from  birth.  Intracranial  calcifications  selectively  affect  the  amygdala  resulting  in  abnormalities  of  fear  processing,  affect  and  cognition,  anxiety,  and  memory.  Clinically  patients  demonstrate  grand  mal  epilepsy,  attacks  of  rage,  and  mental  retardation.