A Portuguese case of Hirayama disease

BMJ Case Rep, 2013 · DOI: 10.1136/bcr-2013-200645 · Published: January 1, 2013

Simple Explanation

Hirayama disease is a rare condition affecting young people, mostly men, causing weakness and wasting in the muscles of the hands and forearms. It happens because the spinal cord gets compressed when the neck is bent forward, leading to problems with blood supply to the nerves that control the muscles. Diagnosis involves MRI scans of the neck, especially when bending the neck forward, and nerve tests to confirm the muscle and nerve damage pattern.

Study Duration

6 months

Participants

1 male teenager

Evidence Level

Level 4: Case Report

Key Findings

1
A 17-year-old boy with scoliosis presented with progressive muscle weakness and atrophy in his left upper limb over 6 months.
2
MRI showed spinal cord thinning and anterior displacement of the dural sac during cervical flexion, consistent with Hirayama disease.
3
Electrophysiological studies indicated neurogenic atrophy in the C7-T1 myotomes, confirming the diagnosis.

Research Summary

Hirayama disease, also known as monomelic amyotrophy or juvenile spinal muscular atrophy of the distal upper extremity features the impairment of the anterior horn cells of the distal cervical spinal cord secondary to dural sac anterior displacement during cervical ﬂexion. We describe a case of a 17-year-old boy with a history of scoliosis, evaluated in the emergency department for decreased muscle strength and atrophy of the left upper limb with progressive worsening for about 6 months. Brain and spine MRI performed showed ﬂattening of the lower cervical cord and dura mater anterior displacement during cervical ﬂexion. These ﬁndings were consistent with the diagnosis of Hirayama disease.

Practical Implications

Diagnostic Imaging

Spine MRI in cervical flexion is crucial for diagnosing HD, even if neutral position MRI is normal.

Early Diagnosis

Early diagnosis of HD allows for prompt treatment, potentially controlling or reversing the disease and avoiding unnecessary tests.

Treatment Options

Avoidance of prolonged cervical flexion and use of a neck collar may halt progression or even improve paresis in some cases.

Study Limitations

1
Single case report limits generalizability.
2
Further studies are needed to understand the role of elevated IgE in HD pathophysiology.
3
Limited information on long-term outcomes following treatment.

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