title: Cerebro-spinal and renal ochronosis: A rare case report.
abstract: Alkaptonuria, a rare inborn error of tyrosine metabolism, characterized by the absence of homogentisic acid oxidase results in the accumulation of homogentisic acid in the body. Associated renal failure and cerebral infarction is rare and usually occurs in the later stages of the disease. We report a 55-year-old male who presented, initially with features of stroke and degenerative arthritis. He had pigmentation of sclerae, darkening of urine on long standing, abnormal renal profile, degenerative arthritis and cerebral infarction. Alkaptonuria was suspected and biochemical tests confirmed mild renal impairment, homogentisic acid in urine and homogentisic acid crystal was detected cytologically in urine sediment. Such a case of Alkaptonuric ochronosis with cerebrovascular and renal complications have been rarely reported in the previous literature.
authors.affiliation: Department of Biochemistry, Sree Siddhartha Medical College, Sri Siddhartha University, Tumkur, India  ; No-434, 11th main, Ramaiah Enclave, 8th mile, Tumkur road, Bangalore, 560073 Karnataka India.
authors.forename: Sunil Kumar
authors.initials: SK
authors.lastname: Nanda
authors.forename: D R
authors.initials: DR
authors.lastname: Suresh
authors.forename: A
authors.initials: A
authors.lastname: Vamseedhar
authors.forename: K
authors.initials: K
authors.lastname: Pratibha
authors.forename: B
authors.initials: B
authors.lastname: Arjun
keywords: Alkaptonuria; Homogentisic acid; Ochronosis; Renal failure; Stroke