Lowe Syndrome: Report of a Case and Brief Literature Review

Gholamhossein Amirhakimi*, MD; Mohamad-Hosein Fallahzadeh, MD; Hedyeh Saneifard, MD Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, IR Iran Received: Jul 20, 2008; Final Revision: Jun 03, 2009; Accepted: May 01, 2009 Abstract Background: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare x-linked recessive disorder first described in 1952. This syndrome is characterized by ocular involvement, mental retardation and kidney disease. The causative gene is OCRL1. Survival rarely exceeds 40 years. Case Presentation: A 13-year-old boy was referred because of short stature. In physical examination his height was 108.2 cm. He had poor growth, psychomotor retardation, severe hypotonia, congenital cataract which was operated on earlier in life, searching nystagmus, anti social behavior and used foul language. He had been on treatment for renal tubular acidosis (Fanconi syndrome) since 8 month of age. Conclusion: The possibility of OCRL should be considered in boys with cataracts and glumerolar disease. As the condition can be diagnosed in first months of life, early treatment can prevent patients from various complications. Iranian Journal of Pediatrics, Volume 19 (Number 4), December 2009, Pages: 417-420