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Evoked potentials in children with Wilson's disease
Meral Topcu1, Mehmet Akif Topcuoglu, Gulsen Kose
1Department of Pediatric Neurology, Hacettepe University Hospitals, Ankara, Turkey. mtopcu@gen.hun.edu.tr
Insights
Evoked potentials (EPs) reveal early neurological changes in Wilson's disease (WD) relatives. Abnormalities in EPs appear before Kayser-Fleischer rings and MRI lesions, aiding early diagnosis and treatment decisions.
Area of Science:
- Neuroscience
- Clinical Neurology
- Genetics
Background:
- Wilson's disease (WD) is a genetic disorder causing copper accumulation.
- Early detection and treatment are crucial to prevent irreversible neurological damage.
- Current diagnostic methods may not detect subclinical disease stages effectively.
Purpose of the Study:
- To evaluate the utility of multimodal evoked potentials (EPs) in detecting early neurological involvement in Wilson's disease.
- To compare EP abnormalities in patients, presymptomatic siblings, asymptomatic siblings, and parents.
- To determine if EPs can identify subclinical disease before other diagnostic markers.
Main Methods:
- Multimodal evoked potentials (EPs) were assessed in 13 children with newly diagnosed WD and their first-degree relatives.
- EPs included brainstem auditory EPs and visual EPs.
- Results were compared between patient groups and correlated with other diagnostic tests.
Main Results:
- EP abnormalities were found in 38.5% of patients and 42.9% of presymptomatic siblings.
- Abnormal VEP P100 latency was significantly more frequent in presymptomatic siblings (42.9%) than asymptomatic siblings (7.1%).
- EP abnormalities occurred earlier than Kayser-Fleischer rings and MRI lesions, with normal results from EEG, EMG, and MRI in relatives.
Conclusions:
- Abnormal EPs can indicate early, subclinical neurological involvement in Wilson's disease.
- EP recordings are valuable for family screening and may guide early treatment initiation.
- EPs offer a sensitive tool for monitoring treatment efficacy and disease progression in early-stage WD.
Abstract:
We assessed multimodal evoked potentials (EPs) in 13 children with newly diagnosed neurologically symptomatic Wilson's disease (WD) and in their first degree symptom-free relatives, consisting of seven presymptomatic and 15 asymptomatic siblings and 22 asymptomatic parents. EP abnormalities of at least one modality and one side stimulation were observed in 38.5% of patients, 42.9% of presymptomatic siblings, 21.4% of asymptomatic siblings and 18.2% of parents. Patients tended to have more prolonged central latencies of EPs. However, the left I-V interpeak brainstem auditory EP latency difference was the only one to reach at the statistical significance (P = 0.001). Abnormal VEP P100 latency was detected more frequently in presymptomatic siblings than those in asymptomatic ones (42.9% vs 7.1%, P = 0.049). In all relatives, other diagnostic tests including electroencephalography, electromyography and head magnetic resonance imaging (MRI) for subclinical nervous system involvement and Kayser-Fleischer rings examination yielded normal results. In pre/asymptomatic siblings, genetic and biochemical studies may aid to initiate treatment prior to the development of permanent tissue damage. Our results indicate that abnormal EPs may signal unique pathological finding in some subjects. Importantly, these abnormalities occur earlier than Kayser-Fleischer rings and MRI lesions. In early stages of WD, EP recordings may, therefore, be used to help decide on treatment initiation and treatment efficacy evaluation. Moreover, EP recordings can readily be added to family screening studies.