Zhang Liangjie, Zhu Ling, Ci Chunling, Ai Wenlong, Wang Yu, Wang Xun
Anhui University of Traditional Chinese Medicine, Hefei, 230012, China.
Department of Neurology, Affiliated Hospital of Neurology Research Institute, Anhui University of Traditional Chinese Medicine, Hefei, 230061, China.
BMC Neurol. 2024 Jan 25;24(1):44. doi: 10.1186/s12883-024-03541-2.
Wilson's disease (WD) is an inherited disorder of copper metabolism. Agenesis of the corpus callosum is the complete or partial absence of the major united fiber bundles connecting the cerebral hemispheres. Intracranial lipoma is an adipose tissue tumor resulting from an abnormal embryonic development of the central nervous system. The simultaneous occurrence of these three disorders is rare and has not been reported. This report focuses on the pathogenesis and association between the three disorders and highlights the importance of recognizing and effectively managing their coexistence.
The purpose of this study was to present a patient with coexisting WD, intracranial lipoma, and corpus callosum dysplasia. We reviewed a female patient hospitalized in 2023 with clinical manifestations of elevated aminotransferases and decreased ceruloplasmin, as well as genetic testing for an initial diagnosis of Wilson's disease. Subsequently, a cranial MRI showed corpus callosum dysplasia with short T1 signal changes in the cerebral falx, leading to a final diagnosis of Wilson's disease combined with intracranial lipoma and corpus callosum dysplasia. The patient's WD is currently stable after treatment with sodium dimercaptosulfonamide (DMPS) and penicillamine, and the patient's abnormal copper metabolism may promote the growth of intracranial lipoma.
The pathogenesis of WD combined with intracranial lipoma and corpus callosum dysplasia is complex and clinically rare. The growth of intracranial lipomas may be associated with abnormal copper metabolism in WD. Abnormal copper metabolism affects lipid metabolism and triggers inflammatory responses. Therefore, early diagnosis and treatment are beneficial for improvement. Each new case of this rare co-morbidity is important as it allows for a better assessment and understanding of these cases' more characteristic clinical manifestations, which can help estimate the course of the disease and possible therapeutic options.
威尔逊病（WD）是一种遗传性铜代谢紊乱疾病。胼胝体发育不全是连接大脑半球的主要联合纤维束完全或部分缺失。颅内脂肪瘤是一种由中枢神经系统胚胎发育异常导致的脂肪组织肿瘤。这三种疾病同时发生的情况罕见，此前未见报道。本报告重点关注这三种疾病之间的发病机制及关联，并强调认识和有效管理它们共存情况的重要性。
本研究旨在介绍一名同时患有威尔逊病、颅内脂肪瘤和胼胝体发育异常的患者。我们回顾了一名2023年住院的女性患者，其临床表现为转氨酶升高和铜蓝蛋白降低，并通过基因检测初步诊断为威尔逊病。随后，头颅磁共振成像（MRI）显示胼胝体发育异常，大脑镰出现短T1信号改变，最终诊断为威尔逊病合并颅内脂肪瘤和胼胝体发育异常。该患者经二巯基丙磺酸钠（DMPS）和青霉胺治疗后，威尔逊病目前病情稳定，患者异常的铜代谢可能促进了颅内脂肪瘤的生长。
威尔逊病合并颅内脂肪瘤和胼胝体发育异常的发病机制复杂，临床罕见。颅内脂肪瘤的生长可能与威尔逊病中异常的铜代谢有关。异常的铜代谢影响脂质代谢并引发炎症反应。因此，早期诊断和治疗有助于改善病情。每一例这种罕见的共病新病例都很重要，因为它有助于更好地评估和理解这些病例更具特征性的临床表现，从而有助于估计疾病进程和可能的治疗选择。
