|
|
|
|
The pathophysiology of startle disease(hyperekplexia)is unknown. Hyperactivity of the brainstem reticular formation has been suggested as a cause.We report a newborn infant with classic features of startle disease in whom cerebrospinal fluid(CSF)concentrations of gamma-aminobutyric acid (GABA)were substantially lower than normal during the first weeks of life. She improved greatly on clonazepam treatment.We suggest that the signs of this disorder may be due to a genetic defect or to delayed maturation resulting in low CSF GABA. |
|