Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.

Caterina Borgna-Pignatti, Milena Azzalli, Stefania Pedretti

Journal: The Journal of pediatrics 2009;155(2):295-7

PMID: 19619756

Full Text on Elsevier Science View on PubMed

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.

Address: Department of Clinical and Experimental Medicine-Pediatrics, University of Ferrara, Ferrara, Italy. [email protected]

DOI: 10.1016/j.jpeds.2009.01.062

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MeSH Terms: Anemia, Megaloblastic, Diabetes Mellitus, Female, Follow-Up Studies, Hearing Loss, Sensorineural, Humans, Thiamine, Vitamin B Complex, Young Adult