RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58082650
T1 Pearson 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=58082650
RD 2024/04/25
AB Mitochondrial  Cytopathy  Disease  presenting  in  infancy  as  sideroblastic  anemia,  pancytopenia,  defective  oxidative  phosphorylation,  exocrine  pancreatic  insufficiency,  and  variable  hepatic,  renal,  and  endocrine  failure.  Death  often  occurs  in  infancy  as  a  consequence  of  infection  or  metabolic  crisis.  Those  who  survive  the  first  year  of  life  present  with  Kearns-Sayre  Syndrome  (progressive  mitochondrial  disorder  characterized  by  progressive  external  ophthalmoplegia  and  weakness  of  skeletal  muscle).