발작을 주소로 내원한 Walker-Warburg 증후군 1례

• 영문명: A Case of Walker-Warburg Syndrome Presented with Seizures
• 발행기관: 대한소아신경학회
• 저자명: 김성구(Seong Koo Kim) 이진영(Jin Young Lee) 김영훈(Young Hoon Kim) 이인구(In Goo Lee)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제18권 제2호, 332~337쪽, 전체 6쪽
• 주제분류: 의약학 > 소아과학
• 파일형태: PDF
• 발행일자: 2010.11.30

영문 초록

Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, brain (lissencephaly, hydrocephalus, cerebellar malformations) and retinal abnormalities, and is associated with mental retardation and seizures. In 1942, Walker was the first to report a case of WWS. As Fukuyama congenital muscular dystrophy or muscle-eye-brain disorder, it has been demonstrated that the glycosylation defects of α-dystroglycan which take a great role in muscle and neuron regeneration are at the root of these disorders. We report a five months old male patient who was presented with seizures as the chief complaint and was diagnosed with WWS, based on clinical criteria, MRI, muscular biopsy, ocular examination, and laboratory findings.

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키워드

Muscular dystrophies Lissencephaly