Chronic renal failure revealing a Lowe's syndrome. First case report from an Algerian family

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The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder the causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete renal Fanconi syndrome are often recognized only later in life. Other characteristic features are progressive severe growth retardation and behavioral problems. We report the first case in our country of a young adult male with LS who was born blind, with a fanconi syndrome as initial symptomatology, associated with a neurological symptomatology having undergone several surgical acts on his rachitic bones but without success and that from the young age, no diagnosis established until he arrives at the stage of chronic renal insufficiency in hemodialysis, and poses an enormous problem for his renal transplant because of his intellectual delay in spite of the insistence of this project for his family because he is their only child .