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

Author(s): K. K. Tallur, D. A. Johnson, J. M. Kirk, P. A. G. Sandercock, R. A. Minns

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.

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ISBN: 0012-1622
Publication Year: 2005
Periodical: Developmental Medicine and Child Neurology
Periodical Number: 1
Volume: 47
Pages: 53-56
Author Address: