TY  - CHAP
M1  - Book, Section
TI  - Zellweger Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Marciniak, Bruno
A1  - Dalens, Bernard J.
PY  - 2006
T2  - Syndromes: Rapid Recognition and Perioperative Implications
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.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=58090431
ER  -