Coffin-Lowry syndrome is a well-defined clinical entity classically associated with moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers. A characteristic paroxysmal disorder was described in up to 10% patients with Coffin-Lowry syndrome, characterized by sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. These events were given several names, including cataplexy, nonepileptic collapses with atonia, exaggerated startle responses, hyperekplexia, and stimulus-induced drop episodes. Various therapies were undertaken for these drop attacks, including clonazepam, tiagabine, felbamate, selective serotonin reuptake inhibitors, and tricyclics, with variable improvement. We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks.
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 May 2015.
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#24,997,390
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#13
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