RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164088647
T1 Zellweger 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=1164088647
RD 2024/04/25
AB Most  severe  manifestation  of  disease  within  the  spectrum  of  peroxisome  biogenesis  disorders.  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  noticeable  at  birth,  mental  retardation,  seizures,  coagulopathy,  and  dysphagia  with  recurrent  aspiration.  Life  expectancy  is  approximately  6  months  but  may  reach  infancy  or  late  childhood  in  milder  forms.