Megaloblastic anaemia, diabetes and deafness in a 2-year old child
| dc.contributor.author | Davidson, Alan | |
| dc.contributor.author | Hartley, Patricia S | |
| dc.contributor.author | Berman, Peter | |
| dc.contributor.author | Shuttleworth, Margaret H G | |
| dc.date.accessioned | 2016-09-19T08:32:16Z | |
| dc.date.available | 2016-09-19T08:32:16Z | |
| dc.date.issued | 2005 | |
| dc.date.updated | 2016-01-05T10:56:58Z | |
| dc.description.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. | |
| dc.identifier | http://dx.doi.org/10.1080/22201009.2005.10872119 | |
| dc.identifier.apacitation | Davidson, A., Hartley, P. S., Berman, P., & Shuttleworth, M. H. G. (2005). Megaloblastic anaemia, diabetes and deafness in a 2-year old child. <i>South African Medical Journal</i>, http://hdl.handle.net/11427/21795 | en_ZA |
| dc.identifier.chicagocitation | Davidson, Alan, Patricia S Hartley, Peter Berman, and Margaret H G Shuttleworth "Megaloblastic anaemia, diabetes and deafness in a 2-year old child." <i>South African Medical Journal</i> (2005) http://hdl.handle.net/11427/21795 | en_ZA |
| dc.identifier.citation | 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. | |
| dc.identifier.ris | TY - Journal Article AU - Davidson, Alan AU - Hartley, Patricia S AU - Berman, Peter AU - Shuttleworth, Margaret H G AB - 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. DA - 2005 DB - OpenUCT DP - University of Cape Town J1 - South African Medical Journal LK - https://open.uct.ac.za PB - University of Cape Town PY - 2005 T1 - Megaloblastic anaemia, diabetes and deafness in a 2-year old child TI - Megaloblastic anaemia, diabetes and deafness in a 2-year old child UR - http://hdl.handle.net/11427/21795 ER - | en_ZA |
| dc.identifier.uri | http://hdl.handle.net/11427/21795 | |
| dc.identifier.uri | http://www.tandfonline.com/doi/abs/10.1080/22201009.2005.10872119 | |
| dc.identifier.vancouvercitation | Davidson A, Hartley PS, Berman P, Shuttleworth MHG. Megaloblastic anaemia, diabetes and deafness in a 2-year old child. South African Medical Journal. 2005; http://hdl.handle.net/11427/21795. | en_ZA |
| dc.language.iso | eng | |
| dc.publisher.department | Division of Child and Adolescent Psychiatry | en_ZA |
| dc.publisher.faculty | Faculty of Health Sciences | en_ZA |
| dc.publisher.institution | University of Cape Town | |
| dc.source | South African Medical Journal | |
| dc.source.uri | http://www.jemdsa.co.za/index.php/JEMDSA | |
| dc.title | Megaloblastic anaemia, diabetes and deafness in a 2-year old child | |
| dc.type | Journal Article | en_ZA |
| uct.type.filetype | Text | |
| uct.type.filetype | Image | |
| uct.type.publication | Research | en_ZA |
| uct.type.resource | Article | en_ZA |