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. 2010 Apr;25(2):213-6.
doi: 10.1007/s12291-010-0038-6. Epub 2010 May 27.

Cerebro-spinal and renal ochronosis: A rare case report

Sunil Kumar Nanda  1 , D R Suresh, A Vamseedhar, K Pratibha, B Arjun
Affiliations

Cerebro-spinal and renal ochronosis: A rare case report

Sunil Kumar Nanda et al. Indian J Clin Biochem. 2010 Apr.

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.

Keywords: Alkaptonuria; Homogentisic acid; Ochronosis; Renal failure; Stroke.

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