Chiari Malformation and Syringomyelia Associated with Hirayama Disease

doi:10.1016/j.wneu.2019.12.101

World Neurosurgery

Volume 135, March 2020, Pages 241-244

https://doi.org/10.1016/j.wneu.2019.12.101 Get rights and content

Background

To the best of our knowledge, the presence of Chiari formation and Hirayama disease in the same patient has not been previously reported. On the basis of the presented case, we have attempted to identify the common pathogenesis of both of these clinical entities.

Case Description

We have reported a case of a 23-year-old male patient who had presented with complaints of pain in the nape of neck and shoulders of 9 months’ duration, weakness and stiffness in all 4 limbs, and wasting and weakness of muscles of both hands of 6 months’ duration. The investigations showed Chiari formation and syringomyelia. Additional investigations depicted the characteristic radiological features associated with Hirayama disease. The patient was treated by atlantoaxial and multisegmental subaxial cervical spinal fixation.

Conclusions

Spinal instability seems to be the nodal point of the pathogenesis of both Chiari formation and 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.

References (18)

A. Goel et al.
Multilevel spinal stabilization as a treatment for Hirayama disease: report of an experience with five cases
World Neurosurg
(2017)
A. Shah et al.
Recovery of transcranial motor evoked potentials after atlantoaxial stabilization for Chiari formation: report of 20 cases
World Neurosurg
(2019)
K. Hirayama et al.
Juvenile muscular atrophy of unilateral upper extremity: a new clinical entity
Psychiatr Neurol Jpn
(1959)
K. Hirayama
Juvenile muscular atrophy localized in hands and forearm: observation in 38 cases
Rinsho Shinkeigaku
(1972)
A. Goel et al.
Atlantoaxial fixation using plate and screw method: a report of 160 treated patients
Neurosurgery
(2002)
A. Goel et al.
Plate and screw fixation for atlanto-axial dislocation (technical report)
Acta Neurochir (Wien)
(1994)
R. Roy-Camille et al.
Surgery of the cervical spine. 2. Dislocation. Fracture of the articular processes
Nouv Presse Med
(1972)
K. Hirayama et al.
Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity
Neurology
(2000)
S. Pradhan
Bilaterally symmetric form of Hirayama disease
Neurology
(2009)

There are more references available in the full text version of this article.

Cited by (5)

Surgical Management of Hirayama Disease (Monomelic Amyotrophy): Systematic Review and Meta-Analysis of Patient-Level Data
2023, World Neurosurgery
Hirayama disease or juvenile-onset monomelic amyotrophy is a clinical syndrome that disproportionately affects young males. Standard of care revolves around conservative management, but some patients experience disease progression that may benefit from surgical intervention.
Using Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, a systematic review of previous reports of surgical treatment for Hirayama disease was performed. Studies were included if they provided individual patient-level data, described the clinical presentation and surgical intervention, and reported neurological improvement at last follow-up. Comparison between those who improved and those with stable symptoms at last follow-up was performed. Decision-tree analysis was used to identify the best predictors of neurological improvement by last follow-up.
Of 624 unique articles, 30 were included in the qualitative review and 23 in the meta-analysis. Among the 70 patients in the meta-analysis, mean age was 21.2 ± 6.3 years, 91% were male, and mean symptom duration at presentation was 43.3 ± 61.8 months. Fifty-nine patients (84.3%) had improvement in their neurological symptoms by last follow-up. Univariable analysis showed the only significant predictor of improvement in neurological symptoms by last follow-up was the use of stabilization-alone versus decompression with or without stabilization. Baseline clinical symptoms nor radiographic features predicted outcome. Decision-tree analysis showed surgical strategy (stabilization-alone vs. decompression ± stabilization), age (<20 vs. ≥20), and surgical approach (anterior-only vs. posterior-only or anterior-posterior) predicted a higher likelihood of neurological improvement by last follow-up.
Nearly 85% of patients experienced improvement in neurological symptoms. Improvement was best for those who underwent stabilization-alone, and decision-tree analysis suggested that the likelihood of improvement was also superior for patients under 20 years of age and those treated with an anterior versus posterior or staged approach.
In Reply to the Letter to the Editor Regarding “Chiari Formation and Syringomyelia Associated with Hirayama Disease”
2020, World Neurosurgery
Letter to the Editor Regarding “Chiari Malformation and Syringomyelia Associated with Hirayama Disease”
2020, World Neurosurgery
Chiari 1 Formation Redefined–Clinical and Radiographic Observations in 388 Surgically Treated Patients
2020, World Neurosurgery
Citation 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
The subject of Chiari formation is revisited and redefined. Results of surgical treatment of patients with Chiari formation by atlantoaxial fixation are presented.
Results were analyzed of 388 patients with Chiari formation surgically treated during 2010 to June 2019.
Two hundred and sixty-six patients had syringomyelia. Two hundred and three patients had no craniovertebral bone abnormality and 74 patients had group A and 111 patients had group B basilar invagination. Twenty-nine patients had been earlier treated by foramen magnum decompression surgery with or without duroplasty. Clinical parameters, analysis of video recordings both before and after surgery, and patient self-assessment were included in the analysis of outcome. Immediate postoperative and sustained clinical improvement was observed in 385 patients (99.4%).
Satisfactory clinical outcome in most patients after atlantoaxial fixation and without any manipulation of neural structures, dura, or bone in the region of foramen magnum consolidates the viewpoint that atlantoaxial instability is the nodal point of pathogenesis of Chiari 1 formation. The study suggests that Chiari 1 formation may be a secondary natural neural alteration in the face of atlantoaxial instability. The role of foramen magnum decompression surgery needs to be reassessed.
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.

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Case ReportChiari Malformation and Syringomyelia Associated with Hirayama Disease

Background

Case Description

Conclusions

Introduction

Section snippets

Case Description

Discussion

Conclusions

World Neurosurg

World Neurosurg

Juvenile muscular atrophy of unilateral upper extremity: a new clinical entity

Psychiatr Neurol Jpn

Juvenile muscular atrophy localized in hands and forearm: observation in 38 cases

Rinsho Shinkeigaku

Atlantoaxial fixation using plate and screw method: a report of 160 treated patients

Neurosurgery

Plate and screw fixation for atlanto-axial dislocation (technical report)

Acta Neurochir (Wien)

Surgery of the cervical spine. 2. Dislocation. Fracture of the articular processes

Nouv Presse Med

Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity

Neurology

Bilaterally symmetric form of Hirayama disease

Neurology

Case Report
Chiari Malformation and Syringomyelia Associated with Hirayama Disease