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EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis
S L Vanhanen1, K Sainio, M Lappi
1Hospital for Children and Adolescents, University of Helsinki, Paediatric Neurology, Finland.
Insights
Neurophysiological assessments like EEG and evoked potentials aid in diagnosing infantile neuronal ceroid-lipofuscinosis (INCL). These tests reveal progressive abnormalities, helping track disease advancement and differentiate INCL from other conditions.
Area of Science:
- Pediatric Neurology
- Neurophysiology
- Genetic Neurological Disorders
Background:
- Infantile neuronal ceroid-lipofuscinosis (INCL) is a severe genetic neurodegenerative disorder.
- Early diagnosis and monitoring of INCL progression are crucial for patient management.
Purpose of the Study:
- To evaluate the utility of electroencephalography (EEG) and evoked potentials (EPs) in the early diagnosis and progression monitoring of INCL.
- To characterize the neurophysiological changes associated with INCL in young children.
Main Methods:
- The study involved 16 children diagnosed with INCL, aged 0.5 to 5.4 years.
- Neurophysiological assessments included EEG, electroretinograms (ERG), visual evoked potentials (VEP), and somatosensory evoked potentials (SEP).
Main Results:
- EEG abnormalities were detected early, though the EEG can be normal pre-clinically. Initial findings included attenuated eye-opening responses and later, disturbances in background activity and sleep spindles.
- Evoked potentials were normal in early stages. SEP abnormalities appeared around 1.7 years, while ERG and VEP abnormalities emerged by 2.5 years.
- All neurophysiological reactions were abolished by age 4, indicating significant disease progression.
Conclusions:
- Follow-up EEG provides valuable insights for the early diagnosis of INCL.
- Evoked potentials are useful for tracking disease progression and in the differential diagnosis of INCL.
Abstract:
Sixteen children with infantile neuronal ceroid-lipofuscinosis (INCL), age range 0.5 to 5.4 years, were studied using EEG, electroretinograms (ERG), visual evoked potentials (VEP) and somatosensory evoked potentials (SEP). Electroencephalography was the first of these examinations to reveal abnormalities, however the EEG may be normal at the preclinical stage. The first abnormality to appear was an attenuated reaction to passive eye opening and closing which was followed by disturbances in background activity and diminution in amplitude, and by disappearance of sleep spindles. The gradual disappearance of posterior rhythm reactivity and of sleep spindles suggests that thalamic dysfunction progresses with time. EEG inactivity appeared by the age of 3 years. Evoked potentials were normal in the early stages of the disease. SEP showed abnormalities at Stage 2 (1.7 years), while ERG and VEP abnormalities appeared at Stage 3 (by the age of 2.5 years). All neurophysiological reactions examined were abolished by the age of 4 years. Follow-up EEG gives important hints as to the early diagnosis of INCL. Progression of the disease can be followed by evoked potentials which may also be helpful in the differential diagnostics.