ESPE Abstracts

Background: Rogers syndrome or thiamine responsive megaloblastic anaemia (TRMA) with diabetes mellitus (DM) and deafness is an uncommon autosomal recessive disorder. We report the case of an eleven-month-old girl with TRMA.

Case presentation: She was admitted to the hospital with paleness, hypotonia, diarrhoea and fever. She was born to first degree consanguineous Moroccan parents. Our patient medical history was relevant for hemolytic anaemia at the age of 1 month, not followed up. Laboratory investigations revealed hemoglobin 7 g/dl, folic acid 22 μg/l (N 3–20 μg/l), vitamin B12 628 ng/l (N 180–500 ng/l), iron 74 μg/dl, ferritin 202 μg/l. Blood smear showed anisocytosis with a predominance of macrocytic cells. The bone marrow aspirate showed hypercellularity, ringed sideroblasts and abnormal erythropoiesis with megaloblasts. Hemoglobin electrophoresis was normal. On admission, serum glucose was 429 mg/dl, HbA1c 9.4% (N 4.0–6.2%) and C peptide level 0.8 μg/l (N 0.5–3.0 μg/l). IAA, ICA, GADA and IA2A were negative. Auditory evoked brainstem responses revealed deep to total sensorineural hearing loss. Severe macrocytic anaemia and hyperglycemia led us to the diagnosis of TRMA and oral thiamine was given 100 mg/d. The diagnosis was confirmed by molecular analysis (homozygote mutation in the nucleic acid sequence of exon 2 introducing a premature stop codon).

Conclusion: Our patient presents a TRMA with DM, anaemia and deafness associated with ophthalmologic disorders. Treatment with pharmacological doses of vitamin B1 improved the clinical features but had no effect on the hearing loss. The causal gene of TRMA is SLC19A2, encoding a high-affinity thiamine transporter. Diabetes is a non-type 1 DM. Various types of anaemia, which respond to therapy, are described in TRMA. Hearing loss is irreversible. Ocular symptoms are inconsistent in association with TRMA. TRMA should be kept in mind in the differential diagnosis of DM and/or megaloblastic anaemia especially if consanguinity is present.