An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia.
Indian J Pathol Microbiol
; 2023 Sep 05.
Article
in En
| MEDLINE
| ID: mdl-38391342
ABSTRACT
ABSTRACT Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness. It results from the deficiency of a thiamine transporter protein. We herein report a 16-year-old Indian male referred to our centre with complaints of refractory anaemia, deafness, diabetes pulmonary arterial hypertension and tricuspid regurgitation. Based on the clinical features and haematologic picture and dramatic response of anaemia to thiamine therapy the possibility of a TRMA was considered. Sequencing analysis for TRMA revealed a homozygous c.242dup (p.Tyr81Ter) mutation of the SLC19A2 gene.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Indian J Pathol Microbiol
Year:
2023
Document type:
Article
Affiliation country:
India