Lowe's syndrome in a female child: A case report
10.4055/jkoa.1994.29.2.440
- Author:
Sung Keun SOHN
;
Sung Soo KIM
;
Bum Ho JUNG
- Publication Type:Case Report
- Keywords:
Lowe's syndrome
- MeSH:
Acidosis;
Ammonia;
Cataract;
Child;
Female;
Glaucoma;
Growth Plate;
Humans;
Hydrophthalmos;
Intellectual Disability;
Male
- From:The Journal of the Korean Orthopaedic Association
1994;29(2):440-445
- CountryRepublic of Korea
- Language:Korean
-
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.
