J Korean Pediatr Soc.  1999 Mar;42(3):419-423.

Two Cases of Oculocerebrorenal Syndrome of Lowe

• Kim SW
• Yu YS
• Kim IO
• Cheong HI
• Hwang YS
• Choi Y

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.

Keyword

Oculocerebrorenal syndrome of Lowe

MeSH Terms

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