Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
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
© © 2009 by Center of Excellence for Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences,All rights reserved.
Lowe Syndrome: Report of a Case and Brief Literature Review|
Amirhakimi, Gholamhossein; Fallahzadeh, Mohamad-Hosein & Saneifard, Hedyeh
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.
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.
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.
Cataract; Hypotonia; Renal tubular acidosis; Mental retardation; Short stature; Oculocerebrorenal syndrome
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