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At a glance

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.

Synonyms

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

History

First described by Lon E. Rogers, an American pediatrician, in 1969.

Incidence

Rare, thirty families reported.

Genetic inheritance

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

Pathophysiology

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.

Diagnosis

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. Hearing loss is permanent. Age of diagnosis is usually within first few years of life.

Clinical aspects

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 mellitus may persist. Other occasionally reported features include cardiac septal defects, progressive optic atrophy, and situs inversus viscerum totalis.

Precautions before anesthesia

Complete history and physical assessment with further investigation depending on findings. Ensure the correction of the hematological, neurological, and cardiovascular symptoms by the 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 pre- and postoperatively. Evaluate cardiac function (clinical, chest radiographs, echocardiography).

Anesthetic considerations

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. Perioperative arrhythmias are common.

Pharmacological implications

Prophylactic antibiotics in case of ...

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