[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.
Choquet
P
P
Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme-Mère-Enfant, 59 Boulevard Pinel, 69500 Bron Lyon, France. paulinechoquet@club-internet.fr
Levrat
V
V
Pondarre
C
C
Vianney
C
C
Guffon
N
N
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