Two Cases of Oculocerebrorenal Syndrome of Lowe.
- Author:
So Won KIM
1
;
Young Suk YU
;
In One KIM
;
Hae Il CHEONG
;
Yong Seung HWANG
;
Yong CHOI
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Oculocerebrorenal syndrome of Lowe
- MeSH:
Brain;
Cataract;
Central Nervous System;
Clone Cells;
Diagnosis;
Fanconi Syndrome;
Genetic Therapy;
Humans;
Magnetic Resonance Imaging;
Molecular Biology;
Muscle Hypotonia;
Neurologic Manifestations;
Oculocerebrorenal Syndrome*;
Rehabilitation
- From:Journal of the Korean Pediatric Society
1999;42(3):419-423
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
