Prolapsed lumbar disc in alkaptonuria

oleh: Surapaneni Suresh Babu, G Sudhakar, P E Sonylal, M.U.S.K. Sridevi

Format: Article
Diterbitkan: Wolters Kluwer Medknow Publications 2016-01-01

Deskripsi

Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of AKU are the presence of HGA in the urine, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. We present a case of 48-year-old woman with a history of low back pain and left sided sciatica. Preoperative radiograph and computed tomography scan showed multiple calcified discs. Magnetic resonance imaging demonstrated an extruded disc at L4-L5, which was the culprit for her symptoms. She underwent complete discectomy. During discectomy, the disc found to be brittle and dark pigmented. Histopathology reported the disc had ochronoid pigment, and her urine turns dark after alkalization, and she admitted that she passed dark urine since childhood. Prolapsed lumbar disc is a rare entity in calcified discs of ochronotic spine. It requires discectomy in symptomatic patients. It requires long-term follow-up.