Department of Pathology & Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.
Department of Pathology, The Ohio State University, Columbus, Ohio.
Pediatr Dev Pathol. 2020 Aug;23(4):322-325. doi: 10.1177/1093526620903956. Epub 2020 Apr 6.
Mowat-Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of intellectual disability, characteristic facial dysmorphism, and a diverse set of other congenital malformations due to haploinsufficiency of . A variety of brain malformations have been described in neuroimaging studies of MWS patients, and the role of in the brain has been studied in a multitude of genetically engineered mouse models that are now available. However, a paucity of autopsy information limits our ability to correlate data from neuroimaging studies and animal models with actual MWS patient tissues. Here, we report the autopsy neuropathology of a 19-year-old male patient with MWS. Autopsy neuropathology findings correlated well with the reported MWS neuroimaging data and are in keeping with data from genetically engineered MWS mouse models. This autopsy enhances our understanding of function in human brain development and demonstrates the reliability of MWS murine models.
Mowat-Wilson 综合征（MWS）是一种综合征形式的先天性巨结肠，其特征为不同程度的智力障碍、特征性面部畸形，以及由于. 单倍体不足引起的一系列其他先天性畸形。在 MWS 患者的神经影像学研究中已经描述了各种脑畸形，并且现在有大量的基因工程小鼠模型研究. 在大脑中的作用。然而，尸检信息的缺乏限制了我们将神经影像学研究和动物模型的数据与实际的 MWS 患者组织进行相关的能力。在这里，我们报告了一名 19 岁男性 MWS 患者的尸检神经病理学。尸检神经病理学发现与报道的 MWS 神经影像学数据密切相关，与基因工程 MWS 小鼠模型的数据一致。这项尸检增强了我们对. 在人类大脑发育中的功能的理解，并证明了 MWS 小鼠模型的可靠性。
