Other syndromes: Lowe syndrome

Abstract

Lowe syndrome (oculocerebrorenal syndrome; OCRL) is a rare (i.e., 1 in 50,0000), X-linked disorder that was first described in 1952. Myriad medical problems arise including complex glaucoma, hypotonia, dental dysfunction, and renal compromise leading to end-stage renal disease in adolescent or adult life. Persons with Lowe syndrome do not typically live beyond the third decade of life. Death early in life may be due to hypotonia, renal disease, respiratory infections or gastrointestinal infection. Death typically occurs between the late teenage years and the early 30s, because of respiratory illness, epilepsy, sudden death while sleeping, or sometimes from renal failure.