Startle disease--hyperekplexia (two sibling cases).
Two sisters aged 12 and 13 applied to our hospital with complaints of jerking tonic contraction triggered by sudden noise. Diffuse bilaterally polyspike-wave discharges appeared on waking electroencephalography and during that time a startle-induced tonic contraction was seen. Their neurological examinations and neuro-radiological imaging were normal except for hyperreflexia. We presented these cases because of being rare.
Altunbaşak
S
S
Department of Peidiatric Neurology, School of Medicine, University of Cukurova, Adana Turkey.
Baytok
V
V
D000161:Acoustic Stimulation; D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004569:Electroencephalography; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D009127:Muscle Rigidity / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012021:Reflex, Abnormal / Q000235:genetics*; D013216:Reflex, Startle / Q000235:genetics*