Seizures as a presenting feature of late onset metachromatic leukodystrophy

Acta Neurol Scand. 2000 Sep;102(3):192-5. doi: 10.1034/j.1600-0404.2000.102003192.x.


Objectives: We describe 2 patients with epilepsy as an early manifestation of late onset metachromatic leukodystrophy (MLD).

Methods and results: The first patient presented with epileptic seizures at the age of 34 years while neurological and cognitive abnormalities appeared later. MRI findings were compatible with leukodystrophy and low levels of arylsulphatase-A activity confirmed MLD. The second patient developed epileptic seizures and behavioral disturbances at the age of 19 years. She remained stable and seizure free for 8 years. Afterwards she developed uncontrolled epileptic seizures and status epilepticus as well as neurological and cognitive impairment. Leukodystrophy was diagnosed by MRI findings and low levels of arylsulphatase-A activity were compatible with MLD.

Conclusion: Our 2 cases postulate that epileptic seizures may be an early and prominent manifestation of late onset MLD.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Brain / pathology*
  • Brain / physiopathology
  • Cerebroside-Sulfatase / deficiency*
  • Diagnosis, Differential
  • Electroencephalography
  • Epilepsy / etiology*
  • Epilepsy / physiopathology
  • Fatal Outcome
  • Female
  • Humans
  • Leukodystrophy, Metachromatic / complications
  • Leukodystrophy, Metachromatic / diagnosis*
  • Leukodystrophy, Metachromatic / pathology
  • Leukodystrophy, Metachromatic / physiopathology
  • Magnetic Resonance Imaging
  • Male
  • Status Epilepticus / etiology


  • Cerebroside-Sulfatase