Jun Hyun-Ok, Yum Mi-Sun, Kim Eun-Hee, Lee Yun-Jeong, Seo Jong-Jin, Ko Tae-Sung
Division of Pediatric Neurology, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
Division of Pediatric Hemato-oncology, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
Pediatr Neurol. 2015 Nov;53(5):448-51. doi: 10.1016/j.pediatrneurol.2015.06.015. Epub 2015 Jul 2.
Stiff person syndrome is a rare autoimmune, neurological disorder characterized by progressive rigidity and episodic painful spasms, predominantly affecting the proximal limbs and axial muscles, and leading to progressive disability. We report the case of a child who developed symptoms compatible with stiff person syndrome during treatment for pleuropulmonary blastoma.
A 3-year, 5-month-old girl was admitted for gradually worsening postural tremor, painful spasms, and generalized stiffness. Since the age of 3 years, she had been on adjuvant chemotherapy for pleuropulmonary blastoma before surgical resection. Brain magnetic resonance imaging and electroencephalographic findings were normal. Although serologic tests for autoimmune disease, including paraneoplastic antibodies and antiglutamic acid decarboxylase antibodies, were unremarkable, her findings were attributed to a paraneoplastic syndrome based on her clinical features and medical history. However, following the planned pulmonary lobectomy, her symptoms were paradoxically aggravated, with continuous motor unit potential at rest on electromyography, which occurs in stiff person syndrome. She gradually improved during postadjuvant chemotherapy with simultaneous immunotherapy including intravenous immunoglobulins and methylprednisolone, and she had recovered completely when evaluated at the 22-month follow-up visit after completion of her treatment for pleuropulmonary blastoma.
We present the first documented child with stiff person syndrome associated with pleuropulmonary blastoma. The marked clinical improvement following chemotherapy for pleuropulmonary blastoma was yet more proof of the pleuropulmonary blastoma-related stiff person syndrome. In children with a malignancy and stiff person syndrome, a paraneoplastic syndrome should be considered and the treatment for the malignancy must be undertaken.
僵人综合征是一种罕见的自身免疫性神经疾病，其特征为进行性僵硬和发作性疼痛性痉挛，主要影响近端肢体和躯干肌肉，并导致进行性残疾。我们报告了一例在胸膜肺母细胞瘤治疗期间出现与僵人综合征相符症状的儿童病例。
一名3岁5个月大的女孩因姿势性震颤逐渐加重、疼痛性痉挛和全身僵硬入院。自3岁起，她在手术切除前一直在接受胸膜肺母细胞瘤的辅助化疗。脑磁共振成像和脑电图检查结果均正常。尽管包括副肿瘤抗体和抗谷氨酸脱羧酶抗体在内的自身免疫性疾病血清学检查无异常，但根据其临床特征和病史，她的症状被归因于副肿瘤综合征。然而，在计划的肺叶切除术后，她的症状反而加重，肌电图显示静息时出现持续性运动单位电位，这在僵人综合征中会出现。在辅助化疗期间同时进行包括静脉注射免疫球蛋白和甲泼尼龙在内的免疫治疗后，她逐渐好转，在完成胸膜肺母细胞瘤治疗后的22个月随访评估时已完全康复。
我们报告了首例有记录的与胸膜肺母细胞瘤相关的儿童僵人综合征病例。胸膜肺母细胞瘤化疗后临床症状明显改善，进一步证明了与胸膜肺母细胞瘤相关的僵人综合征。对于患有恶性肿瘤和僵人综合征的儿童，应考虑副肿瘤综合征，并必须对恶性肿瘤进行治疗。
