All issues > Volume 42(3); 1999

Case Report

J Korean Pediatr Soc. 1999;42(3):419-423. Published online March 15, 1999.

Two Cases of Oculocerebrorenal Syndrome of Lowe

So Won SW Kim¹, Young Suk YS Yu², In-One IO Kim³, Hae Il HI Cheong¹, Yong Seung YS Hwang¹, Yong Y Choi¹

¹Department of Pediatrics, Seoul National University Children`s Hospital, Seoul, Korea
<sup>2</sup>Department of Ophthalmology, Seoul National University Children`s Hospital, Seoul, Korea
³Department of Radiology, Seoul National University Children`s Hospital, Seoul, Korea

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.

Keywords :Oculocerebrorenal syndrome of Lowe