Lewin Adam B, Storch Eric A, Murphy Tanya K
Rothman Center for Neuropsychiatry, Department of Pediatrics, University of South Florida College of Medicine, St. Petersburg, Florida 33701, USA.
J Child Adolesc Psychopharmacol. 2011 Apr;21(2):177-82. doi: 10.1089/cap.2010.0085. Epub 2011 Apr 12.
Termed pediatric autoimmune neuropsychiatric disorders associated with Streptococcus (PANDAS), these cases of childhood-onset obsessive compulsive disorder and tic disorders resemble the presentation of Sydenham chorea, in that they have an acute onset following a group A beta-hemolytic streptococcal infection (group A Streptococcus), with accompanying neurological signs, and an episodic or sawtooth course. Familial associations of this subgroup of patients remain understudied. This report provides phenotypic descriptions of three youth with PANDAS as well as their genetically identical siblings (in two cases of twins and one case of triplets). These cases highlight the potential for environmental influences for discordant presentations in genetically identical siblings. Despite identical genetics, presentations showed marked variation across siblings (from a full PANDAS presentation to asymptomatic). Further research into environmentally driven influences such as postinfectious molecular mimicry and epigenetic factors that may influence the manifestation of these pediatric neuropsychiatric disorders will promote our understanding of their prevention and treatment.
这些儿童期起病的强迫症和抽动障碍病例被称为与链球菌相关的儿科自身免疫性神经精神疾病（PANDAS），它们类似于 Sydenham 舞蹈病的表现，即它们在 A 组β溶血性链球菌感染（A 组链球菌）后急性起病，伴有神经系统体征，且病程呈发作性或锯齿状。该亚组患者的家族关联仍研究不足。本报告提供了三名患有 PANDAS 的青少年及其基因相同的兄弟姐妹（两例双胞胎和一例三胞胎）的表型描述。这些病例突出了基因相同的兄弟姐妹中出现不一致表现的环境影响潜力。尽管基因相同，但兄弟姐妹之间的表现仍有显著差异（从完全的 PANDAS 表现到无症状）。对诸如感染后分子模拟和可能影响这些儿科神经精神疾病表现的表观遗传因素等环境驱动影响的进一步研究，将促进我们对其预防和治疗的理解。
