A CASE OF LOWE SYNDROME IN A 4-YEAR-OLD GIRL

Abstract

Lowe's syndrome is a rare multisystem disorder characterized by
congenital cataracts, glaucoma, mental retardation, seizures, postnatal growth
retardation, and renal tubular dysfunction with chronic renal failure. The disease is
inherited in an X-linked pattern, the prevalence is 1/500,000, and men are often
affected. In children, clinical symptoms are characterized by renal, neurological, and
ocular abnormalities. Lowe's oculo-cerebro-renal syndrome occurs as a result of
mutations in the OCRL gene (Xq25), leading to the accumulation of
phosphatidylinositol (4,5)-bisphosphate, impaired membrane transport and impaired
remodeling of the actin cytoskeleton. In the kidney, disruption of endosomal
transport reduces protein reabsorption in the proximal tubule. In the eye, abnormal
actin remodeling leads to disorganization of the embryonic lens epithelium and
abnormal development of the trabecular meshwork, which regulates the outflow of
aqueous humor from the eye.