Case ReportChiari Malformation and Syringomyelia Associated with Hirayama Disease
Introduction
Hirayama disease (monomelic amyotrophy) is a relatively rare neuromuscular syndrome first described in 1959 as “juvenile muscular atrophy of unilateral upper extremity.”1,2 Although a number of studies have discussed the pathogenesis and clinical and radiological features of Hirayama disease, the entire subject has been controversial. The ideal treatment has not yet been conclusively identified. To the best of our knowledge, the simultaneous presence of Chiari malformation associated with syringomyelia and Hirayama disease has not yet been reported. We had previously identified the presence of atlantoaxial instability as a cause of Chiari malformation with or without the association of syringomyelia.3 Our earlier study also identified an association between the presence of atlantoaxial instability and multisegmental spinal instability as the cause of Hirayama disease. The present case provided an opportunity to further analyze the pathogenesis and treatment of both Chiari malformation associated with syringomyelia and Hirayama disease.
Section snippets
Case Description
A 23-year-old man presented with the complaints of pain in his neck and progressive stiffness and weakness of all 4 limbs for 9 months. The weakness was more pronounced in his hands. When admitted, he was able to conduct his routine life activities but only with difficulty. Clinical examination revealed spastic quadriparesis, with the power in the upper limbs being worse. He also had wasting of the intrinsic muscles of the hands with characteristic (of Hirayama disease) flexion deformity of the
Discussion
Both Chiari malformation and Hirayama disease can be associated with disabling weakness, wasting, and neuropathic pain. Although the clinical and radiological characteristics have been well defined for both clinical entities, an exact understanding of the pathophysiology and treatment strategy has remained elusive and continues to be highly debated.7, 8, 9, 10, 11, 12, 13 Instability of the spine that includes the atlantoaxial joint as the nodal point of pathogenesis of both Chiari malformation
Conclusions
Considering that Hirayama disease is by itself a rare clinical entity and its association with Chiari malformation and syringomyelia has not been previously reported, careful diagnosis and identification of cases and further experience with treatment are needed to help clarify the issue.
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Cited by (5)
Chiari 1 Formation Redefined–Clinical and Radiographic Observations in 388 Surgically Treated Patients
2020, World NeurosurgeryCitation Excerpt :The more important observation was that atlantoaxial stabilization surgery has the potential of reversal or regression of all secondary alterations.48 The literature is unclear whether CF and syringomyelia in the presence of basilar invagination must be treated differently.31,3255,56-59 Conclusions based on our observations are that all these 3 clinical issues (CF, syringomyelia, and basilar invagination) are a continuum, stages, or different faces of the same pathologic process and atlantoaxial stabilization is the treatment.53
Surgical treatment of spinal cord compression due to Hirayama disease: illustrative case
2022, Journal of Neurosurgery: Case Lessons
Conflict of interest statement: The authors declare that the article content was composed in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.