[Belated decompensation of an Imerslund-Grasbeck disease].
Imerslund-Gräsbeck disease is an autosomic recessive disease characterised by a megaloblastic anemia due to a vitamin B12 deficiency and by a moderate proteinuria without kidney failure. It is caused by the malabsorption of Cobalamin-intrinsic factor complex bringing into play cubulin and other proteins (megaline, amnioless), some mutations of which are described at present. We report herein the observation of a child whose diagnosis was made belatedly during an acute decompensation with biological hemophagocytic syndrome. Its evolution was marked by the appearance of neurological disorders at the beginning of the vitamin B12 substitution treatment. These disorder regressed as the dosage was increase. The purpose of this observation is to recapitulate the main characteristics of this disease and to review the current data.
Eitenschenck
L
L
Département de pédiatrie, CHU de Grenoble, BP 217, 38043 Grenoble, France. Leitenschenck@chu-grenoble.fr
Armari-Alla
C
C
Plantaz
D
D
Pagnier
A
A
Ducros
V
V
D000749:Anemia, Megaloblastic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000209:etiology*; D008297:Male; D011507:Proteinuria / Q000209:etiology; D014806:Vitamin B 12 Deficiency / Q000150:complications*