背景:自身免疫性多内分泌病-念珠菌病-外胚层营养不良是一种罕见的常染色体隐性遗传疾病,由自身免疫调节基因的突变引起。自身免疫性多内分泌病-念珠菌病-外胚层营养不良患者通常表现为甲状旁腺功能减退,肾上腺皮质衰竭,和慢性皮肤粘膜念珠菌病.在自身免疫性多内分泌病-念珠菌病-外胚层营养不良期间,只有少数病例报告了自身免疫性脑炎,但不是作为最初的表现。此外,没有婴儿痉挛/West综合征合并自身免疫性脑炎的报告,部分原因是儿科抗N-甲基-D-天冬氨酸受体脑炎患者的中位年龄,这是儿科自身免疫性脑炎中最常见和最有特点的,是13-14年。在这里,我们介绍一例3个月大的婴儿,其自身免疫性脑炎是自身免疫性多内分泌病-念珠菌病-外胚层营养不良的初始表现,后来发展为婴儿痉挛/West综合征.病例介绍:一名3个月大的女孩因发烧入院,四肢的非自愿运动,右侧面神经麻痹.神经影像学检查结果和脑脊液寡克隆带的存在怀疑急性中枢神经系统脱髓鞘疾病。她对多种甲基强的松龙脉冲疗法无反应,后来发展为婴儿痉挛/韦斯特综合征和糖尿病。利妥昔单抗,一种针对人CD20的嵌合小鼠/人单克隆抗体,可消耗B细胞,最初是作为自身免疫性脑炎的治疗。出乎意料的是,这种治疗导致痉挛完全停止和心律失常消退.患者最终表现出严重延迟的发育里程碑,她的脑电图检查结果显示出周期性的缓慢尖峰波模式。结论:尽管从单个病例中推断结果的能力有限,利妥昔单抗的作用可能提示B细胞在婴儿痉挛/West综合征机制中起关键作用;利妥昔单抗作为自身免疫性脑炎的婴儿痉挛/West综合征患者的病因特异性治疗或其对具有其他潜在机制的婴儿痉挛/West综合征患者的有效性值得进一步研究。
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene. Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy typically exhibit hypoparathyroidism, adrenocortical failure, and chronic mucocutaneous candidiasis. There are only a few
case reports of autoimmune encephalitis during autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, but not as an initial manifestation. Furthermore, there are no
reports of patients with infantile spasms/West syndrome with autoimmune encephalitis, partly because the median age for paediatric patients with anti-N-methyl-D-aspartate receptor encephalitis, which is the most frequent and best characterised in paediatric autoimmune encephalitides, is 13-14 years. Herein, we present a
case of a 3-month-old infant with autoimmune encephalitis as an initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy who later developed infantile spasms/West syndrome.
Case Presentation: A 3-month-old girl was admitted to our hospital with a fever, involuntary movements in all four limbs, and right-side facial palsy. Acute central nervous system demyelination diseases were suspected from neuroimaging findings and the presence of the cerebrospinal fluid oligoclonal band. She did not respond to multiple methylprednisolone pulse therapies and later developed infantile spasms/West syndrome and diabetes mellitus. Rituximab, a chimeric mouse/human monoclonal antibody directed against human CD20 which depletes B cells, was initially administered as a treatment for autoimmune encephalitis. Unexpectedly, this treatment resulted in complete spasm cessation and resolution of hypsarrhythmia. The patient eventually showed severely delayed developmental milestones, and her electroencephalography findings showed periodic generalised slow spike-and-wave pattern. Conclusions: Despite the limited ability to extrapolate findings from a single
case, rituximab\'s effects may suggest that B cells play a crucial role in infantile spasms/West syndrome mechanisms; use of rituximab as an aetiology-specific treatment for infantile spasms/West syndrome patients with autoimmune encephalitis or its effectiveness for infantile spasms/West syndrome patients with other underlying mechanisms warrants further investigation.