RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164088185
T1 Wilson Disease
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=1164088185
RD 2024/04/20
AB It  is  an  inherited  disease  of  copper  metabolism  dysfunction  that  is  characterized  by  cirrhosis  and  central  nervous  system  (CNS)  findings.  The  neurological  clinical  features  include  tremor,  dysarthria,  rigid  dystonia,  seizures,  and  psychiatric  disorders.  Other  clinical  features  include  acute  liver  failure,  chronic  hepatitis,  cirrhosis,  renal  tubular  acidosis,  renal  failure,  and  cardiomyopathy.  It  is  fatal  if  not  recognized  and  treated  promptly.  The  pathognomonic  sign  is  the  presence  of  a  Kayser-Fleischer  ring,  a  brownish-yellow  ring  surrounding  the  corneo-scleral  junction  (limbus).  This  ring  is  visible  especially  when  neurological  symptoms  are  present.  Medications  used  include  chelating  agents  such  as  trientine  and  D-penicillamine,  which  may  present  significant  implications  with  anesthesia.  Zinc  sulphate  supplements  are  also  frequently  used.  Complications  include  liver  failure  and/or  cancer,  as  well  as  kidney  problems.