Thiamine responsive megaloblastic anemia (Rogers syndrome) in a three-year-old child

Konyukhova TV, Trukhina EV
About authors

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia

Correspondence should be addressed: Tatyana Vladimirovna Konyukhova
ul. Samory Mashela, 1, Moscow, 117997, ur.liam@avohunokt

About paper

Author contribution: Trukhina EV — data collection, compilation of the list of references; Konyukhova TV — development of the article's design, manuscript authoring.

Compliance with ethical standards: the study was approved by the local Ethics Committee of Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology.

Received: 2024-05-16 Accepted: 2024-06-02 Published online: 2024-06-24

Thiamine responsive megaloblastic anemia (TRMA), or Rogers syndrome, is a rare autosomal recessive disease characterized by the development of megaloblastic anemia, diabetes mellitus, and progressive sensorineural hearing loss. In some cases, the syndrome causes ophthalmological disorders (retinitis pigmentosa, optic nerve atrophy, maculopathy, nystagmus), heart diseases (paroxysmal atrial fibrillation, supraventricular tachycardia, congenital heart defects, intracardiac conduction disorders) and neurological disorders (epilepsy, cerebrovascular accidents). TRMA develops due to a mutation in the SLC19A2 gene, which encodes ThTr-1 (thiamine transporter protein) expressed in hematopoietic stem cells, pancreatic beta cells, and inner ear cells. The article presents a clinical case of TRMA in a three-year-old child, with the onset in the first year of life, manifesting as anemia and diabetes mellitus. Thiamine therapy ensured a pronounced positive dynamics: the patient's peripheral blood parameters normalized. The clinical description and the literature review herein aim to raise awareness of doctors of all specialties about this syndrome. An atypical clinical picture and lack of knowledge about TRMA often delay the diagnosis and start of therapy.

Keywords: bone marrow, thiamine-responsive megaloblastic anemia, Rogers syndrome, ring sideroblasts, diabetes, sensorineural deafness, gene SLC19A2