RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164073695
T1 Imerslund-Gräsbeck 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=1164073695
RD 2024/04/19
AB Imerslund  Syndrome  is  an  inherited  megaloblastic  anemia  caused  by  a  constitutional  malabsorption  of  vitamin  B12  (cobalamin)  and  caused  by  the  malfunction  of  the  “Cubam”  receptor  in  the  terminal  ileum.  Clinically,  this  medical  condition  is  characterized  with  a  macrocytic,  megaloblastic  anemia,  proteinuria  (50%  of  patients),  glossitis,  cheilosis,  and  peripheral  neuropathy.  The  presence  of  failure  to  thrive,  recurrent  gastrointestinal  or  respiratory  infections,  pallor,  and  fatigue  must  alert  to  the  megaloblastic  anemia.  It  is  not  present  at  birth.  Patient  age  at  diagnosis  varies  from  late  infancy  period  to  about  14  years  old.