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Seizures as a presenting feature of late onset metachromatic leukodystrophy
S Bostantjopoulou1, Z Katsarou, H Michelakaki
13rd Department of Neurology, University of Thessaloniki, Greece.
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.
Insights
Epileptic seizures can be an early sign of late-onset metachromatic leukodystrophy (MLD). These cases highlight epilepsy as a prominent initial symptom of MLD, prompting further investigation.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder.
- It is caused by deficiency of the enzyme arylsulfatase-A (ARSA).
- Late-onset forms of MLD can present with diverse neurological symptoms.
Observation:
- Two patients presented with epilepsy as the primary early symptom of late-onset MLD.
- The first patient experienced seizures at 34, with later cognitive and neurological decline.
- The second patient had seizures and behavioral issues at 19, with later progression.
Findings:
- Magnetic Resonance Imaging (MRI) revealed leukodystrophy in both patients.
- Confirmed diagnosis of MLD through low arylsulfatase-A activity.
- Epileptic seizures were a significant and early clinical manifestation.
Implications:
- Suggests epilepsy can be a key indicator of late-onset MLD.
- Highlights the importance of considering MLD in adults presenting with unexplained seizures.
- Early diagnosis of MLD is crucial for potential management strategies.