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Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings

Published online by Cambridge University Press:  12 January 2005

K Kamath Tallur
Affiliation:
Child Life and Health, University of Edinburgh, UK.
David A Johnson
Affiliation:
Royal Hospital for Sick Children, Edinburgh, UK.
Jean M Kirk
Affiliation:
Royal Hospital for Sick Children, Edinburgh, UK.
Peter AG Sandercock
Affiliation:
Department of Clinical Neurosciences, Western General Hospital, UK.
Robert A Minns
Affiliation:
Royal Hospital for Sick Children, Edinburgh, UK.
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Abstract

Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency may present with variable neurological manifestations. Radiological features include white matter changes (leukoencephalopathy). Clinical, biochemical, and radiological response to treatment may again be variable. Here we present a 12-year follow-up of two siblings on the same treatment regimen, with contrasting long-term findings. The first patient, a female presenting at 15 years, showed a good clinical response, substantial intellectual gain, and complete reversal of leukoencephalopathy. Her brother presented at 13 years 9 months and showed limited clinical and cognitive improvement with persistence of the leukoencephalopathy. Both siblings showed a partial biochemical response to treatment.

Type
Case Report
Copyright
© 2005 Mac Keith Press

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