Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation
Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation
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具有新型 SETX 突变的 ALS4 患者的炎症性神经根神经病
DOI：
10.1136/jnnp-2012-302281
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Kira J.
中科院分区：
文献类型：
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作者：
Saiga T;Tateishi T;Torii T;Kawamura N;Nagara Y;Shigeto H;Hashiguchi A;Takashima H;Honda H;Ohyagi Y;Kira J.
病例报告轻微延迟早期发展导致患者开始步行在1.5年。他很容易福尔斯，从小就患上了弓形足。35岁时，患者出现行走困难。一年后，他发现很难完全伸展他的手指，这在接下来的3个月里加剧了。神经传导研究显示不对称的脱髓鞘模式（正中神经运动传导速度：右侧29 m/s，左侧53 m/s）。随后，患者出现神经源性膀胱。静脉注射免疫球蛋白治疗（20 g/天，持续5天）导致肌无力（手动肌肉测试1分）和正中神经（右侧1.982 mV至3.362 mV，左侧1.342 mV至2.062 mV）和右侧尺神经（6.064 mV至8.296 mV）复合运动动作电位振幅轻度改善。37岁时，患者出现右前臂和大腿内侧进行性远端无力和感觉障碍。在静脉注射甲泼尼龙（1 g/天，持续3天;类固醇脉冲疗法）和随后的口服泼尼松龙治疗（50 mg/天，逐渐减量）两个疗程后，感觉障碍和肌无力均得到改善。此后，当肌无力恶化时，患者接受重复类固醇脉冲治疗。在41岁时，患者再次出现过度远端无力和排尿困难，并被收入我科。患者无类似退行性疾病家族史。观察到四肢细长、右手下垂、双侧弓足、远端优势肌萎缩和四肢无力（图1AeD）。然而，患者未表现出呼吸或延髓无力。躯干和四肢可见肌束震颤。四肢腱反射活跃，踝阵挛。感觉减退和痛觉过敏存在于右臂和双侧Th 9水平以下。患者肩部疼痛，足部振动阈值增加。此外，患者出现排尿困难，需要间歇性自我导尿。
CASE REPORT Slight delays in early development resulted in the patient beginning to walk at 1.5 years. He was prone to falls and had suffered from pes cavus since childhood. At 35 years of age, the patient presented with difficulty walking. One year later he found it difficult to fully extend his fingers and this was exacerbated over the following 3months. Nerve conduction studies revealed asymmetric demyelinating patterns (median nerve motor conduction velocity: right 29 m/s, left 53 m/s). Subsequently, the patient developed a neurogenic bladder. Intravenous immunoglobulin therapy (20 g/day for 5 days) resulted in mild improvement in muscle weakness (one point on the manual muscle test) and in the amplitude of compound motor action potentials for the median (right 1.982 mV to 3.362 mV, left 1.342 mV to 2.062 mV) and right ulnar nerve (6.064 mV to 8.296 mV). At 37 years of age, the patient developed progressive distal weakness and sensory disturbances in the right forearm and medial thigh. Following two courses of intravenous methylprednisolone (1 g/day for 3 days; steroid pulse therapy) and subsequent oral prednisolone treatment(50 mg/day with gradual tapering), sensory impairment and muscle weakness both improved. Thereafter, the patient underwent repeated steroid pulse therapy when muscle weakness became worse. At 41 years of age, the patient again experienced exaggerated distal weakness and dysuria and was admitted to our department. The patient had no family history of similar degenerative diseases. Long, thin limbs, right hand drop, bilateral pes cavus, and distal-dominant amyotrophy and limb weakness were observed (figure 1AeD). However, the patient exhibited no respiratory or bulbar weakness. Fasciculation was visible in the trunk and limbs. Brisk tendon reflexes of the limbs and ankle clonus were present. Hypoesthesia and hyperalgesia were present in the right arm and bilaterally below the Th9 level. The patient suffered from shoulder pain and increased vibratory thresholds in the feet. In addition, he experienced dysuria, which required intermittent self-catheterisation.