미만성 대뇌 피질 이형성증과 뇌량 부분 무발생증이 동반된 Seckel 증후군 1례
A Case of Diffuse Cerebral Cortical Dysplasia and Partial Agenesis of Corpus Callosum in Seckel Syndrome
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초록
Seckel 증후군은 자궁내 성장지연과 출생후 지속적인 저신장과 소두증, 커다란 눈, 부리같이 튀어나온 코, 좁은 얼굴, 작은 턱을 포함하는 새머리 같은 얼굴형태를 특징으로 하는 상염색체 열성 질환으로 정신지체를 동반하며 중추 신경계의 이상이 동반될 수 있는 질환이다. 저자들은 뇌 자기 공명 영상상 미만성 대뇌피질 이형성증과 뇌량 부분 무발생증 소견을 포함하는 Seckel 증후군 환아에서 발달력상 초기의 발달 과정을 확인할 수 있었기에 문헌 고찰과 함께 보고하는 바이다.
Abstract
Seckel syndrome is a rare autosomal recessive disorder characterized by low birth weight, short but proportionate stature, microcephaly, moderate to severe mental retardation and typical facial features mimicking bird including receding forehead and chin, a prominent beaked nose and large eyes. A number of CNS anomalies have been reported in literature that are mental retardation, seizures, pachygyria, arachnoid cysts, large basal ganglia, agenesis of corpus callosum, hypoplasia of cerebellar vermis and cerebral aneurysms. Our patient had seizures, microcephaly, mental retardation and CNS anomalies, including diffuse cerebral dysgenesis, pachygyria and partial agenesis of corpus callosum. We report a case of Seckel syndrome with CNS anomalies and a follow up visit at 5 years later.
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