An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment

Abstract Background Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensori...

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Bibliographic Details
Main Authors: Francesca Di Candia, Valentina Di Iorio, Nadia Tinto, Riccardo Bonfanti, Claudio Iovino, Francesco Maria Rosanio, Ludovica Fedi, Fernanda Iafusco, Francesca Arrigoni, Rita Malesci, Francesca Simonelli, Andrea Rigamonti, Adriana Franzese, Enza Mozzillo
Format: Article
Language:English
Published: BMC 2023-11-01
Series:Italian Journal of Pediatrics
Subjects:
Nonautoimmune diabetes
Optic atrophy
Sensorineural deafness
Thiamine-responsive megaloblastic anemia syndrome
Case series
Online Access:https://doi.org/10.1186/s13052-023-01553-1

Internet

https://doi.org/10.1186/s13052-023-01553-1

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