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一名患有拉布伦综合征和1型神经纤维瘤病的女性妊娠的病例报告及讨论。

Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.

作者信息

Wilson Alison, Hensiek Anke, Jones Megan

机构信息

Department of Obstetrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Department of Neurosciences, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

出版信息

Obstet Med. 2024 Dec;17(4):240-242. doi: 10.1177/1753495X221149161. Epub 2023 Jan 8.

DOI:10.1177/1753495X221149161
PMID:39640958
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11615973/
Abstract

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.

摘要

拉布伦综合征是一种罕见的常染色体隐性神经疾病，其特征为白质脑病、脑钙化和实质囊肿。此前尚无该疾病患者怀孕的报道。本病例报告详细介绍了一名患有拉布伦综合征和1型神经纤维瘤病的初产妇的怀孕情况，该产妇在妊娠中期发生癫痫，但足月分娩，母婴结局良好。该病例强调了对患有遗传疾病的女性进行孕前咨询的重要性，以及在孕期对患有罕见复杂疾病的女性采取多学科护理方法的重要性。

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Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.一名患有拉布伦综合征和1型神经纤维瘤病的女性妊娠的病例报告及讨论。
Obstet Med. 2024 Dec;17(4):240-242. doi: 10.1177/1753495X221149161. Epub 2023 Jan 8.
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本文引用的文献

1
Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome.伴有钙化和囊肿的白质脑病——首例波兰拉布伦综合征患者
Brain Sci. 2020 Nov 18;10(11):869. doi: 10.3390/brainsci10110869.
2
The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1.妊娠对 1 型神经纤维瘤病中神经纤维瘤生长动力学的影响。
PLoS One. 2020 Apr 28;15(4):e0232031. doi: 10.1371/journal.pone.0232031. eCollection 2020.
3
Longitudinal clinical and neuro-radiological findings in a patient with leukoencephalopathy with brain calcifications and cysts (Labrune syndrome).一名患有脑钙化和囊肿的白质脑病（拉布伦综合征）患者的纵向临床和神经放射学表现
eNeurologicalSci. 2017 Jul 21;8:28-30. doi: 10.1016/j.ensci.2017.07.003. eCollection 2017 Sep.
4
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.SNORD118基因的突变会导致伴有钙化和囊肿的脑微血管病性白质脑病。
Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29.
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Pheochromocytoma and Neurofibromatosis Type 1 in a Patient with Hypertension.一名高血压患者同时患有嗜铬细胞瘤和1型神经纤维瘤病
Open Access Maced J Med Sci. 2015 Dec 15;3(4):713-6. doi: 10.3889/oamjms.2015.130. Epub 2015 Dec 6.
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Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature.伴有脑钙化和囊肿的迟发性白质脑病：病例报告及文献复习
BMC Neurol. 2016 Feb 6;16:19. doi: 10.1186/s12883-016-0543-1.
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Anesthetic management of labor and delivery in patients with elevated intracranial pressure.颅内压升高患者分娩期的麻醉管理
Int J Obstet Anesth. 2015 May;24(2):147-60. doi: 10.1016/j.ijoa.2015.01.004. Epub 2015 Jan 19.
8
A case of late-onset leukoencephalopathy, calcifications, and cysts presenting with intracerebral hemorrhage resembling a neoplasm.一例迟发性白质脑病、钙化及囊肿伴类似肿瘤的脑出血病例。
Cerebrovasc Dis. 2013;35(4):396-7. doi: 10.1159/000348312. Epub 2013 Apr 30.
9
Neurofibromatosis type 1 and pregnancy complications: a population-based study.神经纤维瘤病 1 型与妊娠并发症：一项基于人群的研究。
Am J Obstet Gynecol. 2013 Jul;209(1):46.e1-8. doi: 10.1016/j.ajog.2013.03.029. Epub 2013 Mar 25.
10
An adult case of leukoencephalopathy with intracranial calcifications and cysts.
Neurology. 2006 Nov 28;67(10):1890-2. doi: 10.1212/01.wnl.0000244470.06748.18.