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Sporadic Hyperekplexia Plus Syndrome
Sadanandavalli Retnaswami Chandra1, Chetan Vekhande1, Lakshminarayanapuram Gopal Viswanathan1
1Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Insights
This study describes a rare infant disorder causing pathological startle responses and falls. Early diagnosis and treatment with clonazepam are crucial for managing this condition.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Describes a rare pediatric disorder characterized by pathological startle responses.
- Features include systemic involvement, falls, and stiffness with retained consciousness.
Observation:
- A 5-year-old child presented with recurrent falls since the neonatal period, triggered by sound and activity.
- The child exhibited hyperalert facies, mild dysmorphism, and cooperative behavior.
Findings:
- Investigations revealed giant somatosensory evoked potentials and skeletal abnormalities.
- The patient responded exceptionally well to clonazepam.
- Discontinuation of antiepileptic drugs showed no complications.
Implications:
- Highlights the importance of differentiating this disorder from other neurological conditions like myoclonic epilepsy and Tourette syndrome.
- Emphasizes that a high degree of clinical suspicion is essential for accurate diagnosis.
- Suggests clonazepam as a potential therapeutic agent for this condition.
Abstract:
A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine. A 5-year-old child symptomatic with repeated falls spontaneously as well as by sound and activities since neonatal period. He was having hyperalert facies, intelligent, cooperative with mild dysmorphism. His investigations were noncontributory except giant somatosensory evoked potentials and skeletal abnormalities. He showed excellent response to clonazepam and no complications on withdrawing the antiepileptic drugs. Proper diagnosis is of great therapeutic relevance and is based on high degree of suspicion.
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