病例报告:豹综合征白质信号异常的偶然发现

J. N. Mapaga, Mikel J. Martínez, P. K. Ndouongo
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引用次数: 0

摘要

多发性Lentigines综合征是一种常染色体显性遗传的可变表达性疾病,也称为LEOPARD综合征。一种罕见的多种先天性异常疾病,主要以皮肤、面部和心脏异常为特征。也可能出现其他畸形,尤其是大脑畸形和畸形。我们报告了一名患有豹综合征的40岁女性患者的病例,该患者在双侧低听觉的情况下,进行的大脑MRI发现无症状的左枕叶水平的flair高信号病变,我们没有注意到10年后该病变的任何演变,这可能对应于“未识别的闪亮物体:OFU”。总之,LEOPARD综合征是一种涉及多系统的疾病,发现与OFU相对应的病变是可能的。
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Case Report: Fortuitous discovery of a white matter signal abnormality in the context of Leopard syndrome
Multiple Lentigines syndrome is an autosomal dominant inherited disorder of variable expressivity also known by the acronym LEOPARD syndrome. A rare disease with multiple congenital anomalies, mainly characterized by skin, facial and cardiac anomalies. Other malformations can be encountered, in particular cerebral and dysmorphic. We report the case of a 40-year-old female patient known for a Leopard syndrome, who in the context of bilateral hypoacusis, the cerebral MRI carried out finds a lesion in flair hypersignal at the asymptomatic left occipital level, we do not note any evolution of this lesion after 10 years this could correspond to "unidentified shiny object: OFU". In conclusion, LEOPARD syndrome is a disease with a multi-systemic involvement, the discovery of a lesion corresponding to an OFU" is possible.
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