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

Caterina Borgna-Pignatti; Milena Azzalli; Stefania Pedretti

doi:10.1016/j.jpeds.2009.01.062

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

J Pediatr. 2009 Aug;155(2):295-7. doi: 10.1016/j.jpeds.2009.01.062.

Authors

Caterina Borgna-Pignatti¹, Milena Azzalli, Stefania Pedretti

Affiliation

¹ Department of Clinical and Experimental Medicine-Pediatrics, University of Ferrara, Ferrara, Italy. bre@unife.it

PMID: 19619756
DOI: 10.1016/j.jpeds.2009.01.062

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.

Publication types

Case Reports

MeSH terms

Anemia, Megaloblastic / drug therapy*
Anemia, Megaloblastic / genetics
Diabetes Mellitus / drug therapy
Diabetes Mellitus / genetics
Female
Follow-Up Studies
Hearing Loss, Sensorineural / genetics
Humans
Thiamine / therapeutic use*
Vitamin B Complex / therapeutic use*
Young Adult

Substances

Vitamin B Complex
Thiamine