Thiamine responsive megaloblastic anemia syndrome

Ganesh, Ramaswamy; Ezhilarasi, S.; Vasanthi, Thiruvengadam; Gowrishankar, Kalpana; Rajajee, Sarala

doi:10.1007/s12098-009-0058-5

Cited by 12 publications

(6 citation statements)

References 6 publications

(4 reference statements)

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“…Our case also supports the reversibility of diabetes mellitus. In conclusion we report first case of TRMA from Kashmir valley, third from India[1920] and incidentally the first association of TRMA with PDA in the world. This case report stresses the need toward early diagnosis and treatment with thiamine in children presenting with anemia, diabete,s and deafness.…”

Section: Discussionmentioning

confidence: 89%

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

Ganie

Ali

Ahangar

et al. 2012

Indian J Endocr Metab

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Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein. The disorder is rare and has not been reported from our community which has high background of consanguinity. We report a six years old girl who presented with diabetes mellitus which remitted after thiamine replacement. The girl in addition had sensorineural deafness, reinopathy, atrial septal defect and megaloblastic anemia which responded to high doses of thymine. This is the first case reported from Kashmir valley and third from India. The presentation and management in such cases is discussed.

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Section: Discussionmentioning

confidence: 89%

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

Ganie

Ali

Ahangar

et al. 2012

Indian J Endocr Metab

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“…Bone marrow shows megaloblastosis affecting the erythroid, myeloid and megakaryocyte lines. The classical haematological feature is megaloblastic anaemia with erythroblasts, which is often complicated with ringed sideroblasts, thrombocytopenia and neutropenia 10. Boros et al have shown that defective nucleic acid synthesis through impaired transketolase catalysis is the underlying biochemical disturbance.…”

Section: Discussionmentioning

confidence: 99%

Neonatal diabetes mellitus: remission induced by novel therapy

et al. 2019

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A female child with deafness was diagnosed to have neonatal diabetes mellitus at the age of 6 months, on routine evaluation prior to cochlear implant surgery. She presented to us at 11 months of age with diabetic ketoacidosis due to an intercurrent febrile illness. Her haematological parameters showed megaloblastic anaemia and thrombocytopenia. Therefore a possibility of Thiamine Responsive Megaloblastic Anaemia (TRMA) syndrome was considered. She was empirically treated with parenteral thiamine hydrochloride (Hcl). Subsequently, due to the unavailability of pharmacological preparation of oral thiamine Hcl in a recommended dose she was treated with benfotiamine. She had a sustained improvement in all her haematological parameters on oral benfotiamine. The insulin requirement progressively reduced and she is currently in remission for last 2 years. The genetic analysis confirmed the diagnosis of TRMA syndrome. Thus benfotiamine can be considered a new treatment option in management of TRMA syndrome.

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“…We read with interest the case report on Thiamineresponsive megaloblastic anemia (TRMA) [1]. We report our experience with three children with TRMA in two south Indian families.…”

Section: Sirmentioning

confidence: 99%

“…

Sir,We read with interest the case report on Thiamineresponsive megaloblastic anemia (TRMA) [1]. We report our experience with three children with TRMA in two south Indian families.

Case 1 A 12-month-old boy, born to a nonconsanguineous Hindu couple was brought for evaluation of recurrent severe pallor, skin bleeds and hearing impairment.

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confidence: 99%

Thiamine Responsive Megaloblastic Anemia in Three Indian Children

et al. 2011

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Sir,We read with interest the case report on Thiamineresponsive megaloblastic anemia (TRMA) [1]. We report our experience with three children with TRMA in two south Indian families.Case 1 A 12-month-old boy, born to a nonconsanguineous Hindu couple was brought for evaluation of recurrent severe pallor, skin bleeds and hearing impairment. There had been short lasting response to prior treatment with Packed Red Blood Cells (PRBC), oral iron, folic acid and vit. B 12 . Examination revealed severe pallor, and multiple petechiae over the body. There was no response to sounds. Investigations revealed fasting sugar of 160 mg/dL, hemoglobin of 4.3 g/dL, platelets of 20,000/cu.mm, normal total and differential leucocyte counts (TLC and DLC), and dimorphic anemia on peripheral smear. Serum ferritin, folic acid and B 12 levels were normal. Bone marrow examination revealed erythroid hyperplasia with megaloblastic changes. Brainstem audiometry revealed no identifiable waves bilaterally. On oral thiamine (150 mg per day), his hemoglobin increased to 7 g/dL and platelets to 700,000/cu.mm in 5 days. Insulin therapy of 1 IU/kg/day was stopped on day 16. Following discontinuation of thiamine 1 month later, random blood sugar levels increased to 230 mg/dl within 1 week. After restarting thiamine, euglycemia was restored. The child has been periodically followed up on daily thiamine for 5 years now. Both the hemoglobin and glycosylated hemoglobin have remained in the normal range. His deafness has persisted.Case 2 This 2-months-old younger sister of case 1, was evaluated for complaints of progressive pallor. Examination had revealed severe pallor and lack of alerting response to sounds. Her hemoglobin was 5 g/dL, TLC and DLC were normal. Peripheral smear showed dimorphic anemia. Random blood sugar was 238 mgs/dl, and glycosylated hemoglobin was 6.7. Brainstem audiometry revealed no identifiable waves bilaterally. On oral thiamine of 150 mg/day, her hemoglobin normalized within 3 wks and blood sugar normalized within 2 wks. During the 2 year follow up period on oral thiamine, her hemoglobin and blood sugar levels have remained normal. Her hearing has not improved.Case 3 A 44-month-old boy of a non-consanguineous Christian couple presented with progressive pallor and hearing impairment. Starting at the age of 1 year, he had been hospitalized 3 times for gradually progressive severe pallor. He had been diagnosed with dimorphic anemia, and diabetes. He had been treated with PRBC transfusions, iron, folic acid, B 12 and Insulin (1.3 U/kg/day). General physical examination was normal except for severe pallor. Systemic examination revealed widely split and fixed second heart sound, grade III ejection systolic murmur in the pulmonary area and impaired hearing bilaterally. His hemoglobin was 2.5 g/dL, platelets were 22,000/cu.mm, TLC and DLC were normal. Peripheral smear showed dimorphic anemia. Serum ferritin, serum folic acid and vitamin B 12 levels were normal. Bone marrow examination revealed erythroid hyperplasia with megaloblastic chan...

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Thiamine responsive megaloblastic anemia syndrome

Cited by 12 publications

References 6 publications

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

Neonatal diabetes mellitus: remission induced by novel therapy

Thiamine Responsive Megaloblastic Anemia in Three Indian Children

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