Neonatal hyperekplexia: a case report

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Hyperekplexia is a rare neurological disorder characterized by exaggerated startle responses.
• Genetic factors are implicated in hyperekplexia, with familial cases suggesting autosomal dominant inheritance patterns.
• Neonatal onset of generalized stiffness, hyperreflexia, and myoclonic jerks can mimic epileptic seizures.

Purpose of the Study:

• To report a case of infantile hyperekplexia with transient generalized stiffness.
• To highlight the phenotypic variability and familial occurrence of hyperekplexia.
• To describe the clinical course and long-term neurological findings in a child with hyperekplexia.

Main Methods:

• Clinical case presentation and detailed neurological examination.
• Review of family history for neurological disorders.
• Longitudinal follow-up of the child's psychomotor development and neurological signs.

Main Results:

• The infant presented with transient generalized stiffness, hyperreflexia, and myoclonic jerks from birth.
• A family history of hyperekplexia was identified in the father and paternal grandfather.
• At 3 years of age, the child exhibited normal psychomotor development but a persistent exaggerated startle response.

Conclusions:

• Infantile hyperekplexia can present with transient generalized stiffness and myoclonic jerks.
• Familial hyperekplexia underscores the genetic basis of the disorder.
• Persistent abnormal startle responses may be a long-term sequela even with normal psychomotor development.