Neonatal hyperekplexia: a case report

Epilepsia. 1992 Sep-Oct;33(5):817-20. doi: 10.1111/j.1528-1157.1992.tb02187.x.

Abstract

We report the case of a baby with transient generalized stiffness noticeable from the first days of life, hyperreflexia, massive jerks in response to sudden tactile and acoustic stimuli, and long-lasting myoclonic jerks closely resembling epileptic seizures. The father and paternal grandfather both had hyperekplexia. At age 3 years, the child had normal psychomotor development and persistent abnormal startle response to unexpected sounds or touch.

MeSH terms

  • Cerebral Cortex / physiopathology
  • Electroencephalography*
  • Family
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Myoclonus / diagnosis
  • Myoclonus / genetics
  • Myoclonus / physiopathology*
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / genetics
  • Nervous System Diseases / physiopathology*
  • Reflex / physiology
  • Reflex, Startle / physiology*
  • Sleep / physiology
  • Syndrome