Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe): A Case Report from Eastern India

Abstract

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.

Keywords

• Lowe syndrome; OCRL; Cataract