Lennox-Gastaut Syndrome: Perspective of a Parent and a Physician.

This article is co-authored by a parent of a 32-year-old male patient with Lennox-Gastaut syndrome (LGS) and his epileptologist. It discusses the parent's experience of having a child with LGS from diagnosis through living day-to-day with the disease and the physician's perspective when treating this devastating epilepsy syndrome. The patient's mother, who is his legal representative, provided written consent for publication of this article.

Stress as a seizure precipitant: Identification, associated factors, and treatment options.

Stress is a common and important seizure precipitant reported by epilepsy patients. Studies to date have used different methodologies to identify relationships between epilepsy and stress. Several studies have identified anxiety, depression, and childhood trauma as being more common in patients with epilepsy who report stress as a seizure precipitant compared to patients with epilepsy who did not identify stress as a seizure precipitant. In one survey study it was found that a majority of patients with stress-triggered seizures had used some type of stress reduction method on their own and, of those who tried this, an even larger majority felt that these methods improved their seizures. Additionally, small to moderate sized prospective trials, including randomized clinical trials, using general stress reduction methods have shown promise in improving outcomes in patients with epilepsy, but results on seizure frequency have been inconsistent. Based on these studies, we recommend that when clinicians encounter patients who report stress as a seizure precipitant, these patients should be screened for a treatable mood disorder. Furthermore, although seizure reduction with stress reduction methods has not been proven in a randomized controlled trial, other important endpoints like quality of life were improved. Therefore, recommending stress reduction methods to patients with epilepsy appears to be a reasonable low risk adjunctive to standard treatments. The current review highlights the need for future research to help further clarify biological mechanisms of the stress-seizure relationship and emphasizes the need for larger randomized controlled trials to help develop evidence based treatment recommendations for our epilepsy patients.

Macroglossia in amyotrophic lateral sclerosis.

IMPORTANCE: We encountered 2 patients with amyotrophic lateral sclerosis (ALS) with tongue enlargement and protrusion outside the oral cavity (macroglossia). To our knowledge, the relationship between macroglossia and ALS has not been reported in the literature. The objective of this article was to describe the clinical characteristics, imaging, and pathology of macroglossia in ALS and to develop a hypothesis regarding its pathophysiology. OBSERVATIONS: Two patients developed progressive weakness at age 54 and 40 years. Both patients exhibited dysarthria, dysphagia, tongue atrophy, neck extensor weakness, and weakness of jaw closure during a 1-year period. Both required tracheostomy and mechanical ventilation and afterward developed macroglossia. A 3-dimensional-reconstructed sagittal computed tomographic image confirmed tongue protrusion outside the oral cavity with focal compression and showed the transition from the atrophied part of the tongue in the oropharynx to the edematous part outside the mouth. Tongue biopsy demonstrated fatty replacement and fascicles of degenerative muscle. CONCLUSIONS AND RELEVANCE: We are unaware of previous reports of macroglossia in ALS/motor neuron disease. Given the paucity of case material, we speculated that this is an extremely rare complication of ALS. Based on this series, we propose a pathophysiological mechanism by reviewing imaging and tongue biopsy.