A 39-year-old man presented with progressive gait disturbance and urinary incontinence. Medical history disclosed nephrolithiasis, dark urine, osteopenia and osteoarthrosis for 15 years. Examination disclosed crural spastic paraparesis with sensory level at T1 and hyperpigmentation of the sclerae (figure). Neuroimaging studies disclosed cervical spondylotic myelopathy and several discs prolapses. Homogentisic acid levels by HPLC were high in 24-hour urine.
(A) Dark urine and (B) dark sclerae (white arrow). (C) Bone densitometry disclosing osteopenia and increased density in intervertebral lumbar disks. (D-G) Sagittal spine MR imaging showing severe osteoarthropathy, disk herniation at C3-C6 levels, cervical stenosis and hyperintense spine change in T2-weighted sequence (white arrow).
Alkaptonuria or inherited ochronosis is an autosomal recessive inherited metabolic disorder involving mainly the joints, cardiovascular and genitourinary systems. Dark urine and sclerae and diffuse osteoarthropathy represent clues for clinical suspicion.1,2 Early adult-onset cervical spondylotic myelopathy represents a severe neurologic complication.1,2
Study Funding
No targeted funding reported.
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Footnotes
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