環軸椎亜脱臼と黄色靭帯石灰化症を伴う非骨傷性頚髄損傷に対して頚椎後方除圧固定を施行したCoffin-Lowry syndromeの1例

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  • Posterior Decompression and Fixation for Cervical Spinal Cord Injury with Atlantoaxial Subluxation and Calcification of Cervical Ligamentum Flavum in a Patient with Coffin-Lowry Syndrome―A Case Report―

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<p>  Background : Coffin-Lowry syndrome (CLS) is a rare, X-linked disease characterized by mental retardation, facial dysmorphism, musculoskeletal abnormalities, cardiac abnormalities, and stimulus-induced drop episodes. Various vertebral diseases, such as scoliosis, develop as a consequence of this disease, and there are reports on the calcification of the cervical ligamentum flavum. The risk of falls is reported to be high as a result of developmental disability and stimulus-induced drop episodes, often leading to traumatic cervical spinal cord injury (SCI). We present the case of a patient with CLS who had calcification of the cervical ligamentum flavum and atlantoaxial subluxation. This patient also experienced cervical SCI due to a fall.</p><p>  Case Description : The patient was a 12-year-old male who had typical facial dysmorphism, tapered fingers, developmental delay, and stimulus-induced drop episodes, which occurred approximately once a month. One day, he experienced a stimulus-induced drop episode and bruised his head. Computed tomography of the cervical spine showed calcification and thickening of the yellow ligament at C2-3. Magnetic resonance imaging displayed compression of the cervical cord. Cervical spine dynamics revealed atlantoaxial subluxation. We diagnosed the patient with quadriplegia secondary to cervical SCI and performed C1-4 posterior fixation and C2-4 laminectomy. During the C2-4 laminectomy, ligamentum flavum calcification was observed at C2-3. No new neurological abnormalities appeared after the operation, and the patient’s paralysis gradually improved. In pathological diagnosis, the extracted tissue was a yellow ligament thickened with calcification.</p><p>  Conclusion : CLS is characterized by multi-system affectation. Appropriate and timely surgical treatment is required with the cooperation of other departments, such as pediatrics, anesthesiology, and endocrinology. In the present case, yellow ligament calcification and atlantoaxial subluxation were observed. C1-4 fixation and C2-4 laminectomy were performed in collaboration with other departments at a children’s hospital.</p>

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  • 脊髄外科

    脊髄外科 35 (2), 181-187, 2021

    日本脊髄外科学会

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