형제에서 발생한 Lowe 증후군

• 영문명: Two Cases of Lowe Syndrome
• 발행기관: 대한소아신경학회
• 저자명: 최봉석(Bong Seok Choi) 이윤진(Yun Jin Lee) 박수은(Su Eun Park) 남상욱(Sang Ook Nam)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제10권 제2호, 374~377쪽, 전체 4쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2002.11.30

국문 초록

저자들은 형제에서 선천성 백내장과 발달 장애 및 편마비를 주소로 내원하여 Lowe 증후군으로 진단된 환아들을 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

영문 초록

Lowe syndrome is, also known as oculocerebrorenal syndrome, a rare X-linked disorder characterized by congenital cataract, hypotonia, developmental delay, cogntive impairment, renal tubular dysfunction, and growth retardation. Recently the defevtive gene, OCRL-1 encoding [PtdIns(4,5)P2] 5-phosphatase, was cloned with mutations kdintified in patients. The diagnosis is based on characteristic clinical manifestations involving three major systems. Two patients had the history of congenital cataract, proteinuria seizure and developmental delay. Patient 2 showed right side hemiplegia due to cerebral infarction of left occipital lobe. There are no specific therapies for this disorder yet, and we provided seizure therapy by antiepileptics.

키워드

Lowe syndrome Cataract Proteinuria Developmental delay Seizure