Background: Thiamine-responsive megaloblastic anemia syndrome(TRMA) is a rare disease characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. The disease can be accompanied by attack of stroke, which are rarely reported. To analyze the clinical characteristics of a case of thiamine-responsive megaloblastic anemia with attack of stroke in our hospital and review the related literature of this syndrome in order to improve the diagnosis and treatment of this disease.
Methods: Detect the organ system related to the syndrome. Blood sugar, hemoglobin, urine routine, blood routine, bone marrow puncture, Coombs test, brain magnetic resonance imaging(MRI), hearing, visual acuity and other examinations. After obtaining the informed consent, the SLC19A2 gene mutation loci of peripheral blood DNA were analyzed in the patient and his family.
Results: Children with intermittent cough, pale complexion and high sugar were treated for one month. Randomized intravenous blood sugar was more than 11.1 mmol/L and urinary routine showed ketone positive. Bone marrow reveals dysplastic hematopoiesis. Vitamin B12/folic acid levels are normal and accompanied by sensorineural hearing loss. Leftsided hemiplegia and MRI revealed ischemic stroke in right Middle Cerebral Artery (MCA) region. TRMA syndrome was established for the patient and additional management included thiamine(100mg/d) was started. Biochemical analysis showed normal blood sugar without insulin injection and the hemoglobin concentration Hemoglobin could maintain normal. Leftsided hemiplegia was become better. After regular follow-up for 4 years, the blood sugar fluctuated between 5-9 mmol/L without insulin injection and the hemoglobin concentration Hemoglobin maintain normal. Leftsided hemiplegia improved significantly. However, sensorineural hearing loss has not improved. The result of SLC19A2 gene homozygous mutation c.726-727insA confirmed the diagnosis by amino acid frameshift mutation.
Conclusions: ay attention to special types of diabetes mellitus when diabetes mellitus companied with other symptoms. Thiamine is the only drug used to treat TRMA. Different clinical manifestations have different reactions to thiamine. It is necessary to monitor blood routine, hearing, blood sugar, glycosylated hemoglobin and other indicators. Follow up for a long time to adjust drug dosage . TRMA is an autosomal recessive inheritance and genetic counseling is necessary.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology