| Two Cases of Oculocerebrorenal Syndrome of Lowe |
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So Won Kim1, Young Suk Yu2, In-One Kim3, Hae Il Cheong1, Yong Seung Hwang1, Yong Choi1 |
1Department of Pediatrics, Seoul National University Children`s Hospital, Seoul, Korea
2Department of Ophthalmology, Seoul National University Children`s Hospital, Seoul, Korea
3Department of Radiology, Seoul National University Children`s Hospital, Seoul, Korea |
| Lowe 안, 뇌, 신 증후군(Oculocerebrorenal Syndrome of Lowe) 2례 |
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김소원1, 유영석2, 김인원3, 정해일1, 황용승1, 최용1 |
1서울대학교병원 소아과
2서울대학교병원 안과
3서울대학교병원 진단방사선과 |
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| Abstract |
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Oculocerebrorenal syndrome of Lowe(OCRL) is a rare X-linked disorder characterized by congenital cataract(oculo-), hypotonia, developmental delay, cognitive impairment(cerebro-), renal tubular dysfunction(renal), and growth retardation. Recently, the defective gene, OCRL-1 gene encoding [PtdIns(4,5)P2] 5-phosphatase, was cloned with mutations identified in patients. Although there have been about 200 cases of OCRL reported in English literature, only three reports have been published in our country including two from an ophthalmologic point of view. This is a case report of two patients diagnosed with OCRL at our hospital. The diagnosis was based on characteristic clinical manifestations involving three major systems(eyes, central nervous system and kidneys) and MRI findings of the brain. There are no specific therapy for this disorder yet, and we provided ophthalologic treatment for congenital cataract, rehabilitation therapy for neurologic symptoms, and supportive therapy for renal Fanconi syndrome. We expect that a molecular genetic diagnosis and gene therapy will be available in the near future. |
| Key Words:
Oculocerebrorenal syndrome of Lowe |
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