PDF(Pubmed)
Abstract：
BACKGROUND: Schwannomatosis is a rare disease characterized by multiple schwannomas of the whole body. Although benign, schwannomatosis that occurs in important areas of the body, such as the brain and spinal canal, can cause considerable disability and mortality. The disease is rare, frequent and relapsing, and this poses a diagnostic and therapeutic challenge.
METHODS: A 40-year-old male had multiple masses all over his body, starting at the age of 19. Four years prior, he started to experience a progressive decrease in muscle strength in both lower limbs and developed urinary and defecation dysfunctions, and gradual paralysis. One month prior, the patient developed pain and numbness in his left forearm. The patient had undergone five surgical procedures for this disease in our department. Based on the family history, imaging examinations, pathological biopsy and molecular biological examinations, the diagnosis of schwannomatosis was confirmed. This time, the patient was admitted to our hospital again for a 6th operation because of the pain and numbness in his left forearm. After the operation, the patient\'s symptoms improved significantly; the patient recovered and was discharged from the hospital. At the last telephone follow-up, the patient reported a poor general condition but was alive.
CONCLUSIONS: Here, we report a rare case of schwannomatosis. We conducted 15 years of patient follow-up and treatment, and analyzed the timing of surgery and patient psychology. This case will further extend our overall understanding of the diagnosis and treatment of this rare tumor.
METHODS: A 40-year-old male had multiple masses all over his body, starting at the age of 19. Four years prior, he started to experience a progressive decrease in muscle strength in both lower limbs and developed urinary and defecation dysfunctions, and gradual paralysis. One month prior, the patient developed pain and numbness in his left forearm. The patient had undergone five surgical procedures for this disease in our department. Based on the family history, imaging examinations, pathological biopsy and molecular biological examinations, the diagnosis of schwannomatosis was confirmed. This time, the patient was admitted to our hospital again for a 6th operation because of the pain and numbness in his left forearm. After the operation, the patient\'s symptoms improved significantly; the patient recovered and was discharged from the hospital. At the last telephone follow-up, the patient reported a poor general condition but was alive.
CONCLUSIONS: Here, we report a rare case of schwannomatosis. We conducted 15 years of patient follow-up and treatment, and analyzed the timing of surgery and patient psychology. This case will further extend our overall understanding of the diagnosis and treatment of this rare tumor.
摘要：
背景：神经鞘瘤病是一种罕见的疾病，其特征是全身多发性神经鞘瘤。虽然是良性的，发生在身体重要区域的神经鞘瘤病，比如大脑和椎管，会导致相当大的残疾和死亡率。这种疾病很罕见,频繁和复发，这对诊断和治疗提出了挑战。
方法：一名40岁男性全身有多个肿块，从19岁开始。四年前,他开始经历下肢肌肉力量的逐渐下降，并出现排尿和排便功能障碍，逐渐瘫痪。一个月前,病人左前臂出现疼痛和麻木。该患者在我们部门接受了五次手术治疗。根据家族史,影像学检查,病理活检和分子生物学检查，诊断为神经鞘瘤病。这一次,由于左前臂疼痛和麻木，患者再次入院接受第6次手术。手术后,患者的症状明显改善，患者康复出院。在最后一次电话随访中，患者报告一般情况较差，但还活着。
结论：这里，我们报告了一例罕见的神经鞘瘤病。我们进行了15年的患者随访和治疗，并分析了手术时机和患者心理。此病例将进一步扩展我们对这种罕见肿瘤的诊断和治疗的整体认识。
方法：一名40岁男性全身有多个肿块，从19岁开始。四年前,他开始经历下肢肌肉力量的逐渐下降，并出现排尿和排便功能障碍，逐渐瘫痪。一个月前,病人左前臂出现疼痛和麻木。该患者在我们部门接受了五次手术治疗。根据家族史,影像学检查,病理活检和分子生物学检查，诊断为神经鞘瘤病。这一次,由于左前臂疼痛和麻木，患者再次入院接受第6次手术。手术后,患者的症状明显改善，患者康复出院。在最后一次电话随访中，患者报告一般情况较差，但还活着。
结论：这里，我们报告了一例罕见的神经鞘瘤病。我们进行了15年的患者随访和治疗，并分析了手术时机和患者心理。此病例将进一步扩展我们对这种罕见肿瘤的诊断和治疗的整体认识。
