Megaloblastic anaemia; diabetes and deafness in a 2-year-old child

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