Abstract

Alkaptonuria is a rare genetic disorder caused by deficiency of the enzyme homogentisic acid dioxidase (HGA). This deficiency leads to deposition of HGA and its products as an ochre-colored pigment in the large joints, intervertebral discs, skin, and within major arteries. Affection of the intervertebral discs mostly occurs at the thoracic and lumbar regions which ultimately results in degeneration, calcification, pseudo-blocked vertebra, and ankyloses in a stepwise manner. Rarely, an affected lumbar disc might herniate into the canal and cause radiculopathy before its calcification. Herein we present two women in whom neuroradiological evaluation of an acute left lower limb radiculopathy revealed a sequestrated L4-L5 disc herniation in both cases. Disc prolapse in these patients was associated with calcification of the thoracic and the upper lumbar intervertebral discs, compatible with ochronosis. Following removal of the pigmented disc material, both patients exhibited marked recovery. With careful review of the literature, we found that besides our cases, only 19 cases have been published previously

Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.