| Autor: |
Bouyahia O; Service de médecine infantile A, hôpital d'Enfants de Tunis, Jebari, 1007 Bab Saadoun, Tunisia. olfa.bouyahia@rns.tn, Ouderni M, Ben Mansour F, Matoussi N, Khaldi F |
| Jazyk: |
angličtina |
| Zdroj: |
Annales d'endocrinologie [Ann Endocrinol (Paris)] 2009 Dec; Vol. 70 (6), pp. 477-9. Date of Electronic Publication: 2009 Nov 18. |
| DOI: |
10.1016/j.ando.2009.09.001 |
| Abstrakt: |
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus and progressive sensorineural deafness. We report the cases of two infants, aged 4 and 5 months, hospitalized for diabetic ketoacidosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine level. Neurosensorial investigations showed bilateral deafness and ophthalmic involvement. Treatment with oral thiamine normalized hematological disorders and controlled diabetes; however, thiamine therapy had no impact on neurosensorial disorders. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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