J Korean Orthop Assoc.  1994 Apr;29(2):440-445. 10.4055/jkoa.1994.29.2.440.

Lowe's syndrome in a female child: A case report

• Sohn SK
• Kim SS
• Jung BH

• KMID: 2423755
• DOI: http://doi.org/10.4055/jkoa.1994.29.2.440

Abstract

Lowe et al. have described a disease characterized by organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation, this disease is now called as Lowe's syndrome or oculo-cerebro-renal syndrome which manifests growth plates, metabolic acidosis, and characteristic eye changes, including bilateral cataract, glaucoma and nystagmus. It is a congenital hereditary affectation. Most of the patients with this syndrome are male sex. We report a new case of Lowe's syndrome in a 5-year old girl.

Keyword

Lowe's syndrome

MeSH Terms

Acidosis
Ammonia
Cataract
Child*
Female*
Glaucoma
Growth Plate
Humans
Hydrophthalmos
Intellectual Disability
Male
Ammonia