특징적 뇌파소견에 의해 진단된 Late Infantile Neuronal Ceroid Lipofuscinosis 1례
A Case of Late Infantile Neuronal Ceroid Lipofuscinosis that was Diagnosed by Characteristic EEG Findings
김종률, 방호일, 이창우,
소속 상세정보
김종률 ( Kim Jong-Ryul )
원광대학교 의과대학 소아과학교실
방호일 ( Bang Ho-Il )
원광대학교 의과대학 소아과학교실
이창우 ( Lee Chang-Woo )
원광대학교 의과대학 소아과학교실
KMID : 0877220020060010053
Abstract
Neuronal ceroid lipofuscinoses (NCL) are the most common childhood neurodegenerative disorders. Clinical features include seizures, blindness, psychomotor deterioration, the age of onset differ for each NCL type. Diagnosis of late infantile NCL relies on the characteristic clinical presentation, electrophysiological and neuroradiological findings, and identification of the ultrastructural abnormalities. The Photoparoxsmal response provide diagnostic clues to an atypical case of Infantile NCL in which results of extraneuronal biopsies were negative and MRI findings resembles leukodystrophy. Photic stimulation with 2 to 5 Hz activity elicited discrete spike and wave discharges in the occipital region on electroencephalogram and no sleep spindles are present. In patients with rapid neurologic deterioration, diagnosis of NCL should be considered and an EEG must be performed using photic stimulation to look for characteristic findings.
키워드
영아 후기형; 근간대성 경련; 광과민성 발작 반응
Late infantile neuronal ceroid lipofuscinoses; Photoparoxsmal response
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