Dr. Reddy et Vssv. Prasad, ALKAPTONURIA PRESENTING AS LUMBAR DISC PROLAPSE - CASE-REPORT AND REVIEW OF LITERATURE, Spinal cord, 36(7), 1998, pp. 523-524
Alkaptonuria is a rare genetic disorder caused by deficiency of the en
zyme homogentisic acid oxidase, resulting in accumulation of homogenti
sic acid in various body tissues; it produces a multisystemic disorder
with a characteristic bluish-black discolouration of the skin and car
tilage, termed ochranosis. Ochranosis primarily involves the large joi
nts of the body including the spine. Spinal involvement produces loss
of flexibility and ankylosis of the thoracic and lumbar segments.(1) T
he clinical presentation with spondylosis and canal stenosis is common
after the third and fourth decades,(2) but intervertebral disc prolap
se is unusual in ochranosis.