Drop episodes in Coffin‐Lowry syndrome: an unusual type of startle response

• DOI: 10.1684/j.1950-6945.2000.tb00378.x
• Publication Date: 2024-03-27T15:08:30Z
• Authors: R. Caraballo; A. Tesi Rocha; C. Medina; N. Fejerman
• Keywords: Male; Reflex, Startle; X Chromosome; Adolescent; Electromyography; Electroencephalography; Syndrome; Epilepsy, Reflex; Syncope; Craniofacial Abnormalities; Diagnosis, Differential; Acoustic Stimulation; Humans; Sex Chromosome Aberrations; Genes, Dominant

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.