Neonatal hyperekplexia: a case report.
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.
Pascotto
A
A
Department of Pediatrics, Naples University, Italy.
Coppola
G
G
D002540:Cerebral Cortex / Q000503:physiopathology; D004569:Electroencephalography; D005190:Family; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D012018:Reflex / Q000502:physiology; D013216:Reflex, Startle / Q000502:physiology*; D012890:Sleep / Q000502:physiology; D013577:Syndrome