형제에서 발생한 Lowe 증후군

Two Cases of Lowe Syndrome

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

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.