Hyperekplexia: Unveiling a Rare Neurological Condition With a Treatable Solution.
Cureus
; 16(6): e61770, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38975479
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Cureus
Año:
2024
Tipo del documento:
Article