search
for
 About Bioline  All Journals  Testimonials  Membership  News  Donations


Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 19, No. 4, 2009, pp. 417-420
Bioline Code: pe09052
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 19, No. 4, 2009, pp. 417-420

 en Lowe Syndrome: Report of a Case and Brief Literature Review
Amirhakimi, Gholamhossein; Fallahzadeh, Mohamad-Hosein & Saneifard, Hedyeh

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.

Keywords
Cataract; Hypotonia; Renal tubular acidosis; Mental retardation; Short stature; Oculocerebrorenal syndrome

 
© © 2009 by Center of Excellence for Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences,All rights reserved.
Alternative site location: http://diglib.tums.ac.ir/pub/

Home Faq Resources Email Bioline
© Bioline International, 1989 - 2017, Site last up-dated on 16-Oct-2017.
Site created and maintained by the Reference Center on Environmental Information, CRIA, Brazil
System hosted by the Internet Data Center of Rede Nacional de Ensino e Pesquisa, RNP, Brazil