반쪽거대뇌증을 동반한 결절성 경화증 1례
A Case of Tuberous Sclerosis with Hemimegalencephaly
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초록
반쪽거대뇌증은 대뇌 반구가 비대칭적으로 비대해지는 드문 질환으로 그 원인이 아직 불분명하다. 결절성 경화증은 상염색체 우성으로 유전되는 피부신경증후군의 하나로 다발성 과오종의 발생을 특징으로 하는 대뇌 피질 기형이다. 문헌상으로 반쪽거대뇌증과 함께 피부 신경 증후군이 동반된 몇몇 증례보고가 있었으나 국내에서는 현재까지 보고가 없다. 저자들은 수차례의 부분발작을 주소로 내원한 36일된 여아에서 결절성 경화증과 함께 반쪽거대뇌증이 동반된 드문 증례를 경험하여 보고하고자 한다.
Abstract
Hemimegalencephaly and tuberous sclerosis complex are distinct and rare conditions which are characterized by malformations of cortical developments. Hemimegalencephaly is a cerebral malformation of unknown pathophysiology characterized by asymmetry of the hemispheres and cortical dysplasia. Tuberous sclerosis complex(TSC) is an autosomal dominant neurocutaneous disorder characterized by the formation of hamartomatous lesion in multiple organ systems. While they are currently thought to be unrelated, there are similar cases in the literature and it is conceivable that an abnormality in early cortical development could lead to both conditions in an individual. We report here a first Korean case of unusual association of hemimegalencephaly and tuberous sclerosis complex with mutation in the TSC2 gene, who presented initially frequent partial seizures and infantile spasms.
참고문헌 (18)
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