# Hyperekplexia: Unveiling a Rare Neurological Condition With a Treatable Solution

## TL;DR

This paper presents a case of a rare neurological condition called hyperekplexia in a young child, which was successfully treated with clonazepam.

## Contribution

The paper contributes a clinical case report demonstrating the treatability of hyperekplexia with clonazepam.

## Key findings

- The child showed a good response to oral clonazepam, with reduced frequency of hypertonia episodes.
- The diagnosis of hereditary hyperekplexia was supported by clinical and electrophysiological findings.
- The child attained age-specific developmental milestones following treatment.

## Abstract

Hyperekplexia (HPX) is a rare hereditary disorder characterized by an exaggerated startle reflex and neonatal hypertonia. It exhibits both autosomal dominant and autosomal recessive inheritance patterns, depending on the gene involved. It could be a fatal neurogenetic disorder, but it is treatable. We reported a nine-month-old female child with mild gross motor delay, an exaggerated startle reflex, and multiple episodes of transient hypertonia. Neurological and electrophysiological investigations and clinical presentation suggested the diagnosis of hereditary HPX. The child showed a good response to oral clonazepam, with a reduced frequency of such episodes and attainment of age-specific milestones.