Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia

Annales d'endocrinologie
O BouyahiaF Khaldi

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.

References

Sep 12, 1998·British Journal of Haematology·A BazarbachiJ H Haidar
May 20, 1999·Diabetes Care·A L RosenbloomW E Winter
Aug 30, 2000·Proceedings of the Society for Experimental Biology and Medicine·G Rindi, U Laforenza
May 19, 2001·Blood Cells, Molecules & Diseases·E J NeufeldM P Steinkamp

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Citations

Jan 31, 2012·Orphanet Journal of Rare Diseases·Marie-Christine VantyghemClaire Douillard
Feb 13, 2009·Annales d'endocrinologie·M-C VantyghemC Douillard
Feb 12, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Shule ZhangGuimei Li

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