Alkaptonuria presenting as lumbar disc prolapse: case report and review of literature

Abstract

Alkaptonuria is a rare genetic disorder caused by de®ciency of the enzyme homogentisic acid oxidase, resulting in accumulation of homogentisic acid in various body tissues; it produces a multisystemic disorder with a characteristic bluish-black discolouration of the skin and cartilage, termed ochranosis. Ochranosis primarily involves the large joints of the body including the spine. Spinal involvement produces loss of¯exibility and ankylosis of the thoracic and lumbar segments. 1 The clinical presentation with spondylosis and canal stenosis is common after the third and fourth decades, 2 but intervertebral disc prolapse is unusual in ochranosis.Keywords: alkaptonuria; ochranosis; disc prolapse; spine Case reportA 22 year old male presented with backache and left sided sciatica of 6 weeks duration. Conservative treatment from his general practitioner failed to relieve the pain and he developed paraesthesiae in left lower limb. There was marked restriction of straight leg raising on the left side; weakness of the left ankle dorsi¯exors and of the extensor hallucis longus; and decreased sensation over the medical aspect of left foot.A clinical diagnosis of prolapsed intervertebral disc at L4/L5 on the left side was made, and he was investigated. Plain radiographs of the lumbar spine were unremarkable; magnetic resonance image tomography revealed a prolapse of the L4/5 intervertebral disc (Figure 1). At operation, there was marked hypertrophy of the facet joints with encroachment onto the canal, and there was severe pressure on the L5 left nerve root due to the underlying bulging disc.

Variant of a Lumbar Disc Cyst in a 13-Year-Old Girl: A Case Report

“…1 Intraspinal extradural masses like disc cysts, 1 perineural cysts, 2 synovial cysts, [3][4][5] and ganglion cysts 6 are rare causes. A disc cyst is a ventrally located, fluid-filled, intraspinal, extradural cystic lesion that communicates with the adjacent parent intervertebral disc as seen on magnetic resonance imaging (MRI) [7][8][9] or discography.…”

Clinical Characteristics and Surgical Management for Juxtafacet Cysts of the Lumbar Spine

“…23) Neuroimaging advances are detecting juxtafacet cysts with increasing frequency. 6,10,11,13,17,19,22,[24][25][26]29,31,32,36,39,41,43) Juxtafacet cysts are thought to form as a result of arthrotic disruption of the facet joint, leading to degenerative spondylolisthesis. 12) Unlike ganglion cysts, synovial cysts are connected to the facet joint and contain a synovial lining.…”

A Case Report of Chronic Low Back Pain with Ochronosis

“…Bu yüzden intervertebral disk herniasyonu olan okronozisli hastalarda teşhis nadirdir, sadece birkaç vaka opere edilmiştir (19). Kronik bel ağrısı olan ve radyolojik olarak intervertebral disklerinde yoğun kalsifikasyonu bulunan hastaların cilt ve dokularında koyu renk değişiklikleri de varsa, tanıda öncelikle okronozisten şüphelenilmelidir (17,20).…”