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

Borgna-Pignatti, Caterina; Azzalli, Milena; Pedretti, Stefania · J Pediatr · 2009

case_report · Level V

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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.

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