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

Dev Med Child Neurol. 2005 Jan;47(1):53-6. doi: 10.1017/s0012162205000095.

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.

Publication types

  • Case Reports

MeSH terms

  • Activities of Daily Living / classification
  • Adolescent
  • Adult
  • Betaine / therapeutic use
  • Brain / drug effects
  • Brain / pathology
  • Drug Therapy, Combination
  • Female
  • Folic Acid / therapeutic use*
  • Follow-Up Studies
  • Homocystinuria / diagnosis
  • Homocystinuria / drug therapy*
  • Homocystinuria / genetics
  • Humans
  • Intelligence / drug effects*
  • Leukoencephalopathy, Progressive Multifocal / diagnosis
  • Leukoencephalopathy, Progressive Multifocal / drug therapy*
  • Long-Term Care
  • Magnetic Resonance Imaging
  • Male
  • Methionine / blood
  • Methylenetetrahydrofolate Reductase (NADPH2) / deficiency*
  • Neurologic Examination / drug effects
  • Treatment Outcome

Substances

  • Betaine
  • Folic Acid
  • Methionine
  • Methylenetetrahydrofolate Reductase (NADPH2)