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March 30, 2021; 96 (13) NeuroImages

Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy

Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, José Marcos Vieira de Albuquerque Filho, Roberta Ismael Lacerda Machado, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira
First published February 10, 2021, DOI: https://doi.org/10.1212/WNL.0000000000011663
Wladimir Bocca Vieira de Rezende Pinto
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Igor Braga Farias
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Bruno de Mattos Lombardi Badia
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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José Marcos Vieira de Albuquerque Filho
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Roberta Ismael Lacerda Machado
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Paulo Victor Sgobbi de Souza
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Acary Souza Bulle Oliveira
From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
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Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, José Marcos Vieira de Albuquerque Filho, Roberta Ismael Lacerda Machado, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira
Neurology Mar 2021, 96 (13) 627-628; DOI: 10.1212/WNL.0000000000011663

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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.

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Figure Examination and Neuroimaging in Alkaptonuria

(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

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No targeted funding reported.

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The authors report no disclosures relevant to the manuscript. Go to Neurology.org/Nhttps://n.neurology.org/lookup/doi/10.1212/WNL.0000000000011663 for full disclosures.

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  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • © 2021 American Academy of Neurology

References

  1. 1.↵
    1. Perrone A,
    2. Impara L,
    3. Bruni A,
    4. Primicerio P,
    5. Marini M
    . Radiographic and MRI findings in ochronosis. Radiol Med 2005;110:349–358.
    OpenUrl
  2. 2.↵
    1. Hendriksz CJ
    . Inborn errors of metabolism for the diagnostic radiologist. Pediatr Radiol 2009;39:211–220.
    OpenUrlPubMed

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