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A rare medical condition caused by a defect in a transporter of thiamine, which results in anemia, diabetes, puffiness, deafness. Situs inversus viscerum totalis is also characteristic.

Thiamine-Responsive Anemia Syndrome; Thiamine-Responsive Myelodysplasia; Thiamine-Responsive Megaloblastic Anemia Combined with Diabetes Mellitus and Sensorineural Deafness.

First described by L.E. Rogers in 1969.

Autosomal recessive; caused by a defect in a thiamine transporter protein (SLC19A2) located on 1q23.2-q23.3.

It is unclear but there is some evidence of decreased uptake of thiamine into some cell types causing a thiamine-dependent state, leading to similar features observed in “thiamine-deficiency beriberi of childhood.” The thiamine reserve and synthesis are normal, however the patients require high-dose thiamine therapy for treatment and for maintaining normal function. Relapse can recur on discontinuation of thiamine therapy.

Clinical features include generalized puffiness, diabetes mellitus, sensorineural deafness. Blood cell count shows megaloblastic anemia or, occasionally, pancytopenia. Bone marrow aspirate shows megaloblastic erythropoiesis and ringed sideroblasts. Urinary sample showed aminoaciduria in one patient. Blood transketolase activity must be obtained to assess thiamine status. Responsiveness to thiamine supplement is often immediate and dramatic. Age of diagnosis is usually within first few years of life.

Characterized by megaloblastic anemia responsive only to thiamine administration, diabetes mellitus, and sensorineural deafness. Other clinical features of “beriberi” may be evident and include generalized puffiness, hoarseness, cardiac failure, and neurological disturbances. Most signs and symptoms are resolved on administration of high doses of thiamine, however the presence of diabetes melitus may persist. Other occasionally reported features include cardiac septal defects, progressive optic atrophy, and situs inversus viscerum totalis.

Complete history and physical assessment with further investigation depending on findings. Ensure the correction of the hematological, neurological and cardiovascular symptoms by administration of a high dose of thiamine. Fulminant “beriberi” symptoms are a contraindication for anesthesia. Preoperative fasting and antidiabetic medications should be tailored according to the severity of the diabetic status and to the surgical procedure planned. Check blood sugar level preand postoperatively. Evaluate cardiac function (clinical, chest radiographs, echocardiography).

There are no specific risks when the patient has been treated. Thiamine administration should be continued during the perioperative period. The glycemia should be monitored frequently and treated accordingly. The placement of central venous catheter could be difficult because of anatomical anomalies as a consequence of situs inversus.

Prophylactic antibiotics in case of cardiac defect.

Bazarbachi A, Muakkit S, Ayas M, et al: Thiamine-responsive myelodysplasia. Br J Haematol 102:1098, 1998.  [PubMed: 9734663]
Neufeld EJ, Fleming JC, Tartaglini E, et al: Thiamine-responsive megaloblastic anemia syndrome: A disorder of high-affinity thiamine transport. Blood Cells Mol Dis 27(1):135, 2001.
Rogers L, Porter F, Sidbury J: Thiamine-responsive megaloblastic anemia. J Pediatr 74:494, 1969.  [PubMed: 5767338]

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