Endocrine Abstracts

We describe four cases of Thiamine Responsive Megaloblastic Anaemia (TRMA), Rogers Syndrome. Three cases are siblings, the fourth from another family. They are all of Pakistani origin and born to consanguineous parents. All have the clinical triad of megaloblastic anaemia, non-type 1 diabetes mellitus, and sensorineural deafness.

The SLC19A2 gene mutation affects the transport of thiamine, which is required for normal tissue growth and development in humans. Thiamine supplementation has the following effects: anaemia resolves but the erythrocytes tend to stay macrocytic; hearing loss seems to be irreversible although may be delayed; Diabetes initially responds but most patients become fully insulin dependent after puberty.

All four cases have been on thiamine supplementation since diagnosis and insulin. Intracellular thiamine levels have been checked and are within the normal range. One case presented acutely in her 20 s with atrial fibrillation and was found to have a grossly dilated heart. Transoesophageal echo revealed a tricuspid valve anomaly. There were no previous cardiac symptoms and therefore a cardiac examination had not been performed when attending diabetes clinic. The other three, although asymptomatic were screened for cardiac complications. Two had normal hearts but one was found to have a large atrial septal defect requiring surgical intervention.

Cardiac anomalies are not one of the cardinal features of Rogers but have been infrequently described. It seems unusual that 2 of the 4 young people with TRMA in Sheffield have been found to have cardiac problems and we suspect an association. Neither of our cases had been suspected previously and had delayed diagnosis with potentially serious consequences. We would recommend cardiac screening of all cases, to detect anomalies early. We would be interested in hearing from paediatricians about other children with Rogers Syndrome.