PDF(Pubmed)
Abstract：
UNASSIGNED: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal-dominant disorder, where a TTR mutations lead to amyloid fibril deposits in tissues and consecutively alter organ function. ATTRv is a multisystemic disorder with a heterogeneous clinical presentation. Spinal leptomeningeal depositions are described only scarcely in the literature.
UNASSIGNED: We present a rare case of surgically treated intradural, extra-medullary amyloidosis with respective clinical, diagnostic and surgical features to raise awareness of this rare entity.
UNASSIGNED: Clinical, radiological and operative characteristics were retrieved from the electronical patient management system. Additionally, a scoping literature review on leptomeningeal spinal manifestations of ATTRv was performed.
UNASSIGNED: A 45-year-old man with a known ATTRv presented with gait disturbance and paresis of the lower extremities. He had been treated with the siRNA therapeutical Patisiran for 13 months under which his symptoms worsened. An MRI of the spine revealed spinal cord compression with myelopathy at the level of T2 with anterior dislocation of the spinal cord due to an intradural, extramedullary lesion. A laminectomy and opening of the dura with a complete resection of the lesion was performed. The histological examination of the biopsy showed amyloid deposits. At six-month follow-up the patient showed complete normalization of the paresis, gait, sensory and urinary disturbances and resumed his work.
UNASSIGNED: Spinal leptomeningeal deposition of amyloid is a rare occurrence within the framework of ATTRv. Micro-neurosurgical complete resection of the lesion is feasible in patients with preoperative myelopathic symptoms and resulted in complete symptom relief in this case.
UNASSIGNED: We present a rare case of surgically treated intradural, extra-medullary amyloidosis with respective clinical, diagnostic and surgical features to raise awareness of this rare entity.
UNASSIGNED: Clinical, radiological and operative characteristics were retrieved from the electronical patient management system. Additionally, a scoping literature review on leptomeningeal spinal manifestations of ATTRv was performed.
UNASSIGNED: A 45-year-old man with a known ATTRv presented with gait disturbance and paresis of the lower extremities. He had been treated with the siRNA therapeutical Patisiran for 13 months under which his symptoms worsened. An MRI of the spine revealed spinal cord compression with myelopathy at the level of T2 with anterior dislocation of the spinal cord due to an intradural, extramedullary lesion. A laminectomy and opening of the dura with a complete resection of the lesion was performed. The histological examination of the biopsy showed amyloid deposits. At six-month follow-up the patient showed complete normalization of the paresis, gait, sensory and urinary disturbances and resumed his work.
UNASSIGNED: Spinal leptomeningeal deposition of amyloid is a rare occurrence within the framework of ATTRv. Micro-neurosurgical complete resection of the lesion is feasible in patients with preoperative myelopathic symptoms and resulted in complete symptom relief in this case.
摘要：
未经证实：遗传性转甲状腺素蛋白淀粉样变性（ATTRv）是一种常染色体显性疾病，其中TTR突变导致淀粉样原纤维在组织中沉积并连续改变器官功能。ATTRv是一种具有异质性临床表现的多系统疾病。文献中很少描述脊髓软脑膜沉积。
未经评估：我们介绍了一例罕见的硬膜内手术治疗，髓外淀粉样变性与各自的临床，诊断和手术特征，以提高对这种罕见实体的认识。
未经证实：临床，从电子患者管理系统中检索放射学和手术特征。此外,对ATTRv的软脑膜脊柱表现进行了范围文献综述。
未经证实：一名45岁男性，已知ATTRv，表现为步态障碍和下肢轻瘫。他已经用siRNA治疗Patisiran治疗了13个月，症状恶化。脊柱MRI显示T2水平的脊髓压迫伴脊髓病变伴硬膜内脊髓前脱位，髓外病变。进行了椎板切除术和硬膜开放，并完全切除了病变。活检的组织学检查显示淀粉样蛋白沉积。在6个月的随访中，患者出现了完全正常化的轻瘫，步态,感觉和泌尿障碍，并恢复他的工作。
未经证实：在ATTRv的框架内，淀粉样蛋白的脊髓软脑膜沉积是罕见的。对于术前有脊髓病变症状的患者，显微神经外科手术完全切除病变是可行的，并且在这种情况下可以完全缓解症状。
未经评估：我们介绍了一例罕见的硬膜内手术治疗，髓外淀粉样变性与各自的临床，诊断和手术特征，以提高对这种罕见实体的认识。
未经证实：临床，从电子患者管理系统中检索放射学和手术特征。此外,对ATTRv的软脑膜脊柱表现进行了范围文献综述。
未经证实：一名45岁男性，已知ATTRv，表现为步态障碍和下肢轻瘫。他已经用siRNA治疗Patisiran治疗了13个月，症状恶化。脊柱MRI显示T2水平的脊髓压迫伴脊髓病变伴硬膜内脊髓前脱位，髓外病变。进行了椎板切除术和硬膜开放，并完全切除了病变。活检的组织学检查显示淀粉样蛋白沉积。在6个月的随访中，患者出现了完全正常化的轻瘫，步态,感觉和泌尿障碍，并恢复他的工作。
未经证实：在ATTRv的框架内，淀粉样蛋白的脊髓软脑膜沉积是罕见的。对于术前有脊髓病变症状的患者，显微神经外科手术完全切除病变是可行的，并且在这种情况下可以完全缓解症状。
