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Stimulus-induced drop episodes in Coffin-Lowry syndrome
1Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California, USA.
Pediatrics
|March 4, 2003
Summary
Coffin-Lowry syndrome (CLS) patients experience stimulus-induced drop episodes (SIDEs). These events are heterogeneous, showing features of both cataplexy and hyperekplexia, and are not epileptic.
Area of Science:
- Neuroscience
- Genetics
- Clinical Neurology
Background:
- Coffin-Lowry syndrome (CLS) is a rare genetic disorder associated with intellectual disability, distinct facial features, and skeletal abnormalities.
- Patients with CLS can experience paroxysmal drop attacks, known as stimulus-induced drop episodes (SIDEs), triggered by stimuli like touch or sound.
Observation:
- This study investigated two teenage boys with CLS presenting with SIDEs.
- Neurophysiologic studies, including simultaneous surface electromyogram (EMG) and video electroencephalogram, were conducted during these episodes.
Findings:
- SIDEs in CLS patients were triggered by auditory, tactile, or visual stimuli, causing loss of lower extremity tone without consciousness impairment.
- Electrophysiologic recordings showed no epileptiform discharges, ruling out epilepsy.
- One patient exhibited transient loss of paraspinal EMG activity, resembling cataplexy, while the other showed increased EMG activity consistent with hyperekplexia.
Implications:
- The findings suggest that SIDEs in Coffin-Lowry syndrome are a diverse group of non-epileptic events.
- These episodes can present with characteristics of both cataplexy and hyperekplexia, sometimes within the same individual.
- Further research into the neurophysiologic underpinnings of SIDEs in CLS is warranted.