Lowe syndrome (Oculo-cerebro-renal syndrome of Lowe): A case report from Eastern India

Lowe syndrome (the oculocerebrorenal syndrome of lowe,ocrl) is a rare x-linked recessive metabolic disorder that primarily affects eyes,kidneys and brain. it is caused by the deficiency of enzyme phosphatidylinositol 4,5-bisphosphate 5-phosphatase. the gene coding for this enzyme,ocrl1 and mutations in it are responsible to cause lowe syndrome. we report a 6 years old boy from eastern india,with lowe syndrome. diagnosis was suggested by typical features in the mri of the brain along with other clinical feature and investigation. © journal of krishna institute of medical sciences university.