oa Journal of Endocrinology, Metabolism and Diabetes in South Africa - Megaloblastic anaemia, diabetes and deafness in a 2-year-old child



Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B&lt;sub&gt;12&lt;/sub&gt; metabolism. &lt;br&gt;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. &lt;br&gt;Also known as Rogers' syndrome, thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. &lt;br&gt;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. &lt;br&gt;There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B<sub>12</sub>, especially in a deaf and/or diabetic child.


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