1例阴唇综合征合并1型神经纤维瘤病妇女妊娠的病例报告和讨论

IF 0.8 Q4 OBSTETRICS & GYNECOLOGY
Obstetric Medicine Pub Date : 2024-12-01 Epub Date: 2023-01-08 DOI:10.1177/1753495X221149161
Alison Wilson, Anke Hensiek, Megan Jones
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引用次数: 0

摘要

Labrune综合征是一种罕见的神经系统常染色体隐性遗传疾病,其特征是白质脑病、脑钙化和实质囊肿。以前没有报道过有这种情况的人怀孕。本病例报告详细描述了一名患有Labrune综合征和1型神经纤维瘤病的初产妇的妊娠情况,她在妊娠中期出现癫痫发作,但在足月分娩,对母亲和婴儿都有良好的效果。该案例强调了对患有遗传疾病的妇女进行孕前咨询的重要性,以及对妊娠期间患有罕见和复杂疾病的妇女采取多学科护理方法的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.

Labrune syndrome is a rare neurological autosomal recessive condition characterised by leukoencephalopathy, cerebral calcification and parenchymal cysts. Pregnancy has not been previously reported in an individual with this condition. This case report details the pregnancy of a primiparous woman with Labrune syndrome and neurofibromatosis type 1 who experienced a seizure in the second trimester of pregnancy, but went on to deliver her baby at term with good outcome for mother and baby. The case highlights the importance of pre-pregnancy advice in women with genetic conditions, and a multidisciplinary approach to the care of women with rare and complicated medical conditions during pregnancy.

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来源期刊
Obstetric Medicine
Obstetric Medicine OBSTETRICS & GYNECOLOGY-
CiteScore
1.90
自引率
0.00%
发文量
60
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