PDF(Pubmed)
Abstract：
BACKGROUND: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and life-threatening autoimmune disease of the central nervous system. So far, only ten cases of PERM have been reported in children worldwide, including the one in this study.
METHODS: We report a case of an 11-year-old boy with PERM with an initial presentation of abdominal pain, skin itching, dysuria, urinary retention, truncal and limb rigidity, spasms of the trunk and limbs during sleep, deep and peripheral sensory disturbances, and dysphagia. A tissue-based assay using peripheral blood was positive, demonstrated by fluorescent staining of mouse cerebellar sections. He showed gradual and persistent clinical improvement after immunotherapy with intravenous immunoglobulin, steroids, plasmapheresis and rituximab.
CONCLUSIONS: We summarized the diagnosis and treatment of a patient with PERM and performed a literature review of pediatric PERM to raise awareness among pediatric neurologists. A better comprehension of this disease is required to improve its early diagnosis, treatment, and prognosis.
METHODS: We report a case of an 11-year-old boy with PERM with an initial presentation of abdominal pain, skin itching, dysuria, urinary retention, truncal and limb rigidity, spasms of the trunk and limbs during sleep, deep and peripheral sensory disturbances, and dysphagia. A tissue-based assay using peripheral blood was positive, demonstrated by fluorescent staining of mouse cerebellar sections. He showed gradual and persistent clinical improvement after immunotherapy with intravenous immunoglobulin, steroids, plasmapheresis and rituximab.
CONCLUSIONS: We summarized the diagnosis and treatment of a patient with PERM and performed a literature review of pediatric PERM to raise awareness among pediatric neurologists. A better comprehension of this disease is required to improve its early diagnosis, treatment, and prognosis.
摘要：
背景：进行性脑脊髓炎伴僵硬和肌阵挛症（PERM）是一种罕见且危及生命的中枢神经系统自身免疫性疾病。到目前为止,全世界仅报告了十例儿童的PERM，包括这项研究中的一个。
方法：我们报告一例患有PERM的11岁男孩，最初表现为腹痛，皮肤瘙痒，排尿困难,尿潴留,躯干和肢体僵硬，睡眠时躯干和四肢痉挛，深层和周围感觉障碍，和吞咽困难.使用外周血进行的基于组织的检测是阳性的，通过小鼠小脑切片的荧光染色证明。他在静脉免疫球蛋白免疫治疗后表现出逐渐和持续的临床改善，类固醇,血浆置换和利妥昔单抗。
结论：我们总结了一例PERM患者的诊断和治疗，并对儿科PERM进行了文献综述，以提高儿科神经科医师的认识。需要更好地理解这种疾病，以提高其早期诊断，治疗,和预后。
方法：我们报告一例患有PERM的11岁男孩，最初表现为腹痛，皮肤瘙痒，排尿困难,尿潴留,躯干和肢体僵硬，睡眠时躯干和四肢痉挛，深层和周围感觉障碍，和吞咽困难.使用外周血进行的基于组织的检测是阳性的，通过小鼠小脑切片的荧光染色证明。他在静脉免疫球蛋白免疫治疗后表现出逐渐和持续的临床改善，类固醇,血浆置换和利妥昔单抗。
结论：我们总结了一例PERM患者的诊断和治疗，并对儿科PERM进行了文献综述，以提高儿科神经科医师的认识。需要更好地理解这种疾病，以提高其早期诊断，治疗,和预后。
