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Hirayama Disease: Case Report.

Victor Alves Rodrigues1, Matheus Rocha Pereira Klettenberg1, Luciano Farage2

  • 1Médico Neurologista Pediátrico do Hospital Universitário de Brasília, Brasília, DF, Brasil.

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|August 15, 2022
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Summary
This summary is machine-generated.

Hirayama disease (HD) is a rare motor neuron disorder causing progressive upper limb weakness in young adults. Early diagnosis through clinical suspicion and imaging is crucial for conservative management with a cervical collar.

Keywords:
Hirayama diseasemagnetic resonance imagingmuscular atrophy, spinalspinal cord

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Area of Science:

  • Neurology
  • Neuron Science

Background:

  • Hirayama disease (HD) is a rare, benign motor neuron disorder typically affecting young men.
  • It primarily impacts cervical spinal segments, leading to progressive, often asymmetric, upper limb weakness.

Observation:

  • A previously healthy 26-year-old male presented with progressive left upper limb weakness, atrophy, and tremor since age 18.
  • Electromyoneurography (EMNG) indicated chronic denervation at C7/C8/T1 nerve roots, worse on the left.
  • Cervical spine MRI revealed degenerative changes and spinal cord compression during flexion, with anterior horn signal changes.

Findings:

  • Clinical and imaging findings were consistent with Hirayama disease (HD).
  • The patient exhibited moderate distal atrophy and weakness, with signs of chronic and active denervation.
  • Dynamic MRI demonstrated cervical spinal cord caliber reduction and signal alterations suggestive of HD.

Implications:

  • This case highlights the importance of considering Hirayama disease in young patients with focal upper limb atrophy.
  • Early and accurate diagnosis, requiring interdisciplinary collaboration, is key for appropriate conservative management, typically involving a soft cervical collar.
  • While rare, recognizing HD can prevent misdiagnosis and ensure timely, effective treatment for this self-limiting condition.