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.
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 epilepticseizures 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 epilepticseizures and behavioral disturbances at the age of 19 years. She remained stable and seizure free for 8 years. Afterwards she developed uncontrolled epilepticseizures 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 epilepticseizures may be an early and prominent manifestation of late onset MLD.
Authors: Stephanie R Keller; Eric J Mallack; Jennifer P Rubin; Jennifer A Accardo; Jennifer A Brault; Camille S Corre; Camila Elizondo; Jennifer Garafola; April C Jackson-Garcia; Jullie Rhee; Elisa Seeger; Kaprice C Shullanberger; Amanda Tourjee; Melissa K Trovato; Amy T Waldman; Jenna L Wallace; Michael R Wallace; Klaus Werner; Angela White; Kevin C Ess; Catherine Becker; Florian S Eichler Journal: J Child Neurol Date: 2020-09-02 Impact factor: 1.987
Authors: Alisa A Shaimardanova; Daria S Chulpanova; Valeriya V Solovyeva; Aysilu I Mullagulova; Kristina V Kitaeva; Cinzia Allegrucci; Albert A Rizvanov Journal: Front Med (Lausanne) Date: 2020-10-20