RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164081146
T1 Pearson 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=1164081146
RD 2024/04/20
AB Mitochondrial  Cytopathy  Disease  presenting  in  infancy  as  refractive  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  with  progressive  external  ophthalmoplegia  and  weakness  of  skeletal  muscle).