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Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response
R Caraballo1, A Tesi Rocha, C Medina
1Hospital Nacional de Pediatría JP Garrahan, Department of Neurology, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina. rcaraballo@janssen.com.ar
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.