Journal
EPILEPSIA
Volume 53, Issue 1, Pages 79-86Publisher
WILEY
DOI: 10.1111/j.1528-1167.2011.03311.x
Keywords
Dravet syndrome; Acute encephalopathy; SCN1A; MRI
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Funding
- Ministry of Health, Labour, and Welfare of Japan [H21-Shinkou-Ippan-010, H22-Nanji-Ippan-049]
- Ministry of Education, Culture, Sports, Science and Technology of Japan [20249053, 23591518]
- Grants-in-Aid for Scientific Research [23591518, 20249053] Funding Source: KAKEN
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Purpose: The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features of acute encephalopathy in children with Dravet syndrome. Methods: Through the mailing list of the Annual Zao Conference on Pediatric Neurology, we collected 15 patients with clinically diagnosed Dravet syndrome, who had acute encephalopathy, defined as a condition with decreased consciousness with or without other neurologic symptoms, such as seizures, lasting for > 24 h in association with infectious symptoms. Key Findings: There were seven boys and eight girls. A mutation of the SCN1A gene was present in nine (truncation in six and missense in three). The frequency of seizures during the 3 months before the onset of acute encephalopathy was monthly in seven children and none in three. The median age at the onset of acute encephalopathy was 44 months ( range 8-184 months). All children had status epilepticus followed by coma as the initial manifestation. Two different distributions of brain lesions were observed on diffusion-weighted images during the acute phase: cerebral cortex-dominant lesions with or without deep gray matter involvement and subcortical- dominant lesions. Four children died; nine survived with severe sequelae, and two had moderate sequelae. Significance: We must be aware that acute encephalopathy is an important complication in children with Dravet syndrome, and associated with fulminant clinical manifestations and a poor outcome.
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