Lowe syndrome (Oculocerebrorenal Syndrome): A case report
Journal Title: International Journal of Medical and Health Research - Year 2017, Vol 3, Issue 10
Abstract
Lowe syndrome (Oculocerebrorenal syndrome of Lowe) is a rare X-linked recessive disorder characterized by the involvement of the eyes, brain, and kidneys. The causative gene is OCRL1. Survival rarely exceeds 40 years. I am reporting on a two-month-old male infant who presented for a 2-month vaccination visit, and was found to have an eye problem (cataract), a brain problem (hypotonia with MRI finding of hypoxic ischemic encephalopathy), and renal problems (left multicystic kidney and ectopic right kidney), which is actually the diagnosis of LOWE syndrome.
Authors and Affiliations
Abdullah Al Saleh
Keywords
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