title: Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response.
abstract: We present a patient with a complete Coffin-Lowry syndrome, associated with drop episodes precipitated by sudden auditory stimuli, which provoked in turn, a definite loss of muscle tone in both legs. Electrophysiological studies showed that these episodes are an unusual type of startle response and that they may be associated with Coffin-Lowry syndrome.
authors.affiliation: Hospital Nacional de Pediatría JP Garrahan, Department of Neurology, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina. rcaraballo@janssen.com.ar
authors.forename: R
authors.initials: R
authors.lastname: Caraballo
authors.forename: A
authors.initials: A
authors.lastname: Tesi Rocha
authors.forename: C
authors.initials: C
authors.lastname: Medina
authors.forename: N
authors.initials: N
authors.lastname: Fejerman
mesh_terms: D000161:Acoustic Stimulation / Q000009:adverse effects*; D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004576:Electromyography; D020195:Epilepsy, Reflex / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D013216:Reflex, Startle / Q000235:genetics* / Q000502:physiology; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013575:Syncope / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome; D014960:X Chromosome