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

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.

journal_name

Dev Med Child Neurol

authors

Tallur KK,Johnson DA,Kirk JM,Sandercock PA,Minns RA

doi

10.1017/s0012162205000095

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

53-6

issue

1

eissn

0012-1622

issn

1469-8749

journal_volume

47

pub_type

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