RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58090431
T1 Zellweger Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications
YR 2006
FD 2006
PB The McGraw-Hill Companies
PP New York, NY
SN 9780071354554
LK accessanesthesiology.mhmedical.com/content.aspx?aid=58090431
RD 2024/04/20
AB A  disorder  characterized  by  the  congenital  absence  of  functioning  peroxisomes  (the  cellular  structures  that  are  responsible  for  the  elimination  of  toxic  substances)  resulting  in  a  cerebrohepatorenal  syndrome.  The  disease  affects  brain  development,  particularly  nerve  myelination.  Most  important  features  include  hepatomegaly,  polycystic  kidney  disease,  visual  disturbances,  and  high  plasma  levels  of  iron  and  copper.  Other  clinical  features  include  muscular  hypotonia  already  noticeable  at  birth,  mental  retardation,  seizures,  coagulopathy,  and  dysphagia  with  recurrent  aspiration.  Congenital  heart  defects  have  been  described.  Life  expectancy  is  approximately  6  months.