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Published on: September 19, 2019
A child with hyperekplexia and epileptic myoclonus
Lara Wadi1, Yasser Medlej2, Makram Obeid3
1Faculty of Medicine, American University of Beirut, Beirut.
Insights
Hyperekplexia, a rare neurological disorder, can mimic epilepsy. This case highlights a child with both hyperekplexia and myoclonic epilepsy, emphasizing the need for accurate diagnosis and tailored treatment.
Area of Science:
- Neurogenetics
- Pediatric Neurology
Background:
- Hyperekplexia is a rare neurogenetic disorder presenting with exaggerated startle responses.
- Accurate diagnosis is crucial as it can be mistaken for epilepsy and lead to severe apnea.
- GLRA1 mutations are a known cause of hyperekplexia.
Observation:
- A toddler presented with frequent head drops and falls, initially suspected as epilepsy due to myoclonic seizures on EEG.
- Whole-exome sequencing identified a GLRA1 mutation, confirming hyperekplexia.
- The child later developed spells triggered by stimuli like noise and surprise.
Findings:
- A novel case of concomitant GLRA1-related hyperekplexia and myoclonic epilepsy was identified.
- The patient's symptoms, including head drops and startle-induced spells, responded well to clonazepam treatment.
- This case demonstrates a mixed presentation of hyperekplexia and epilepsy.
Implications:
- Paediatricians and neurologists must consider hyperekplexia in children presenting with epilepsy-like symptoms.
- Awareness of this mixed presentation aids in appropriate diagnosis and management.
- Tailoring treatment, such as using clonazepam, is vital for patients with combined hyperekplexia and epilepsy.
Abstract:
Hyperekplexia is a rare neurogenetic disorder characterized by startle. Accurate diagnosis of this notorious mimicker of epilepsy is important to prevent life-threatening apnoea. We report a novel case of concomitant GLRA1-related hyperkeplexia and myoclonic epilepsy. A toddler with daily paroxysms of head drops and falls presented with epileptic myoclonus on EEG, however, whole-exome sequencing revealed hyperekplexia-related GLRA1 mutation. The boy eventually developed spells induced by noise and surprise. All his spells remitted upon treatment with clonazepam. Paediatricians and paediatric neurologists should be aware of this possible mixed presentation in order to appropriately tailor medication regimens and treatment goals. [Published with video sequence on www.epilepticdisorders.com].
