Lumbar disc herniation in alkaptonuria: a rare case
The present case has been published in the Indian Spine Journal.

A 34-year-old woman had a history of low back pain for 3 years. Initially the pain was mild, nonradiating, was pronounced on strenuous work, and was relieved by rest. On presentation to the outpatient department, she had low back pain that had aggravated for the past 1 month and pain was radiating to the right lower limb. There was also numbness in her right leg. The patient had a history of dark discoloration of her urine on prolonged standing, i.e., after 2 h of exposure to air.

Her father and her 13-year-old son have similar history of urine turning dark color on prolonged standing, but this finding was not present in her daughter. She had increased frequency of micturition and bowel habits.

During neurological examination, straight leg raising test on the right side was positive at 30° and was negative on the left side. Dorsiflexion of great toe (extensor hallucis longus) power was Grade 3/5. There was decreased sensation in the L5 and S1 dermatomes on the right leg. The patient's hematological and biochemical laboratory studies were normal, except that she was positive for hepatitis B surface antigen (HBsAg positive).

On radiological examination of the spine, the roentgenogram of the lumbosacral spine showed narrowing of L1–L2 and L5–S1 disc space. Other disc spaces were normal, and no other significant findings were found.

A lumbosacral MRI revealed diffuse annular disc bulge with posterocentral herniation at L1–L2 level, diffuse annular bulge with right paracentral extrusion, and inferior migration at L5–S1 level, compressing the right traversing S1 nerve root. Surgical management in the form of L5 laminectomy and L5–S1 discectomy was planned.

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