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Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia.
Ann Endocrinol (Paris). 2009 Dec; 70(6):477-9.AE

Abstract

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.

Authors+Show Affiliations

Service de médecine infantile A, hôpital d'Enfants de Tunis, Jebari, 1007 Bab Saadoun, Tunisia. olfa.bouyahia@rns.tnNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19922902

Citation

Bouyahia, O, et al. "Diabetic Acido-ketosis Revealing Thiamine-responsive Megaloblastic Anemia." Annales D'endocrinologie, vol. 70, no. 6, 2009, pp. 477-9.
Bouyahia O, Ouderni M, Ben Mansour F, et al. Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia. Ann Endocrinol (Paris). 2009;70(6):477-9.
Bouyahia, O., Ouderni, M., Ben Mansour, F., Matoussi, N., & Khaldi, F. (2009). Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia. Annales D'endocrinologie, 70(6), 477-9. https://doi.org/10.1016/j.ando.2009.09.001
Bouyahia O, et al. Diabetic Acido-ketosis Revealing Thiamine-responsive Megaloblastic Anemia. Ann Endocrinol (Paris). 2009;70(6):477-9. PubMed PMID: 19922902.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia. AU - Bouyahia,O, AU - Ouderni,M, AU - Ben Mansour,F, AU - Matoussi,N, AU - Khaldi,F, Y1 - 2009/11/18/ PY - 2007/12/24/received PY - 2008/07/04/revised PY - 2009/09/08/accepted PY - 2009/11/20/entrez PY - 2009/11/20/pubmed PY - 2010/3/5/medline SP - 477 EP - 9 JF - Annales d'endocrinologie JO - Ann Endocrinol (Paris) VL - 70 IS - 6 N2 - 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. SN - 2213-3941 UR - https://www.unboundmedicine.com/medline/citation/19922902/Diabetic_acido_ketosis_revealing_thiamine_responsive_megaloblastic_anemia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0003-4266(09)00261-3 DB - PRIME DP - Unbound Medicine ER -