Thiamine-Responsive Megaloblastic Anemia Syndrome: Long Term Follow-Up - 07/08/11
Doi : 10.1016/j.jpeds.2009.01.062
Caterina Borgna-Pignatti, MD a, ⁎ 
, Milena Azzalli, MD a, Stefania Pedretti, MD a
, Milena Azzalli, MD a, Stefania Pedretti, MD a a Department of Clinical and Experimental Medicine- Pediatrics, University of Ferrara, Ferrara, Italy
Reprint requests: Caterina Borgna-Pignatti, MD, Clinica Pediatrica, Dipartimento di Medicina Clinica e Sperimentale, Università di Ferrara, Via Savonarola 9- 44100 Ferrara, Italy.Abstract |
Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease.
Le texte complet de cet article est disponible en PDF.Mots-clés : ERG, Hb, IVGTT, MCV, TRMA, VEPs
Plan
| The authors declare no conflicts of interest. |
© 2009
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Vol 155 - N° 2
P. 295-297 - août 2009 Retour au numéro
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