1.
Qatar Medical Journal. 2008; 17 (2): 56-57
de Anglais
| IMEMR
| ID: emr-111077
RÉSUMÉ
Thiamine-responsive megaloblastic anemia [TRMA] is a rare autosomal recessive disorder including megaloblastic anemia, thrombocytopaenia, diabetes mellitus and progressive sensorineural deafness. We report cases of two infants, aged respectively four and five months, hospitalized for diabetic-acido-ketosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine-levels. Neurosensorial investigations showed bilateral deafness and ophthalmic involvements. Treatment with oral thiamine normalized hematological parameters and ameliorated diabetes