Megaloblastic anaemia, diabetes and deafness in a 2-year old child
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2005
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South African Medical Journal
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University of Cape Town
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Abstract
Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both of which proved responsive to pharmacological doses of thiamine. She was also found to have sensorineural hearing loss. Also known as Rogers’ syndrome, thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. A clinical diagnosis is supported by characteristic bone marrow findings and can be confirmed by demonstrating apoptosis in skin fibroblasts cultured in thiamine-depleted medium. Where available, DNA sequencing is definitive. There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B12, especially in a deaf and/or diabetic child.
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Davidson, A., Hartley, P. S., Berman, P., & Shuttleworth, M. H. (2005). Megaloblastic anaemia, diabetes and deafness in a 2-year-old child. Journal of Endocrinology, Metabolism and Diabetes of South Africa, 10(2), 62-63.