[Imerslund-Gräsbeck syndrome].
Anemia is a very common symptom encountered in numerous clinical situations in pediatrics. Etiologies range from classic iron-deficiency anemia to the more particular etiologies. We report on a clinical history where usual symptoms such as asthenia, drowsiness and proteinuria provided a rare diagnosis: Imerslund-Gräsbeck syndrome. We discuss the exams to be done with aregenerative macrocytic anemia so as not to underestimate these diagnoses, which each require adapted treatments.
Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme-Mère-Enfant, 59 Boulevard Pinel, 69500 Bron Lyon, France. paulinechoquet@club-internet.fr
P
P
Choquet
V
V
Levrat
C
C
Pondarre
C
C
Vianney
N
N
Guffon
D000749:Anemia, Megaloblastic / Q000188:drug therapy / Q000235:genetics*; D001247:Asthenia / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D006801:Humans; D011507:Proteinuria / Q000235:genetics; D035583:Rare Diseases; D012894:Sleep Stages / Q000235:genetics; D013577:Syndrome; D016896:Treatment Outcome; D014806:Vitamin B 12 Deficiency / Q000235:genetics