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揭开这一有趣谜团:成年女性中的结节性异位和巨大枕大池。

Unveiling the intriguing puzzle: Nodular heterotopia and Mega Cisterna Magna in an adult female.

作者信息

Shrivastava Priyal, Hatgaonkar Anand, Jobanputra Meet, Kashikar Shivali, Parihar Pratapsingh

机构信息

Department of Radio-Diagnosis, Jawaharlal Nehru Medical College Wardha, Datta Meghe Institute of Higher Education and Research (DU), Sawangi (Meghe), Wardha, Maharashtra, India.

Department of Radio-Diagnosis, Datta Meghe Medical College Nagpur, Datta Meghe Institute of Higher Education and Research (DU), Sawangi (Meghe), Wardha, Maharashtra, India.

出版信息

Radiol Case Rep. 2023 Nov 3;19(1):281-284. doi: 10.1016/j.radcr.2023.09.099. eCollection 2024 Jan.

DOI:10.1016/j.radcr.2023.09.099
PMID:38028293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10652119/
Abstract

The co-occurrence of Mega Cisterna Magna and Periventricular Nodular Heterotopia in an adult female patient is an uncommon and intriguing observation. Most instances are X-linked, typically with the Xq28-localized filamin A gene FLNA as the culprit. In this case study, we present a 52-year-old female patient who sought medical care for recurring headaches and epilepsy. The present case emphasizes the necessity for ongoing study and exploration into the clinical trajectory and imaging of uncommon correlations between nodular heterotopia and mega cisterna magna.

摘要

一名成年女性患者同时出现巨大枕大池和室管膜下结节性异位是一种罕见且引人关注的现象。大多数病例为X连锁遗传,通常是位于Xq28的细丝蛋白A基因FLNA为致病原因。在本病例研究中,我们介绍了一名52岁的女性患者,她因反复头痛和癫痫前来就医。本病例强调了持续研究和探索结节性异位与巨大枕大池之间罕见关联的临床病程及影像学表现的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e16a/10652119/001a23e506ef/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e16a/10652119/5fab6f0204e1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e16a/10652119/e933fafd2129/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e16a/10652119/ea7cf8fbb017/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e16a/10652119/001a23e506ef/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e16a/10652119/5fab6f0204e1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e16a/10652119/e933fafd2129/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e16a/10652119/ea7cf8fbb017/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e16a/10652119/001a23e506ef/gr4.jpg

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本文引用的文献

1
Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality.病例报告:伴有细丝蛋白A基因异常的无症状家族性室管膜下异位的MRI表现。
Front Neurosci. 2022 Jul 27;16:956545. doi: 10.3389/fnins.2022.956545. eCollection 2022.
2
Periventricular nodular heterotopy of the gray matter: A case report.脑室周围灰质结节性异位症:一例报告。
Radiol Case Rep. 2022 Jul 9;17(9):3291-3293. doi: 10.1016/j.radcr.2022.06.018. eCollection 2022 Sep.
3
haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
杂合性缺失导致室管膜下结节性异位,具有不同的临床表现。
J Med Genet. 2022 Aug;59(8):781-784. doi: 10.1136/jmedgenet-2021-107783. Epub 2021 Aug 5.
4
47 patients with FLNA associated periventricular nodular heterotopia.47例与FLNA相关的脑室周围结节性异位患者。
Orphanet J Rare Dis. 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9.
5
Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia.立体定向激光消融致痫性脑室周围结节性异位
Epilepsy Res. 2014 Mar;108(3):547-54. doi: 10.1016/j.eplepsyres.2014.01.009. Epub 2014 Jan 30.
6
Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI.室管膜下结节性异位的位置与 MRI 上的畸形表型有关。
AJNR Am J Neuroradiol. 2013 Apr;34(4):877-83. doi: 10.3174/ajnr.A3312. Epub 2012 Oct 11.
7
Clinical significance of isolated mega cisterna magna.孤立性大枕大池的临床意义
Arch Gynecol Obstet. 2007 Nov;276(5):487-90. doi: 10.1007/s00404-007-0369-6. Epub 2007 Apr 24.
8
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges.室管膜下结节性异位:分类、癫痫病史及癫痫放电的起源
Epilepsia. 2006 Jan;47(1):86-97. doi: 10.1111/j.1528-1167.2006.00374.x.
9
Gray matter heterotopia.灰质异位症
Neurology. 2000 Dec 12;55(11):1603-8. doi: 10.1212/wnl.55.11.1603.
10
Hereditary nodular heterotopia accompanied by mega cisterna magna.伴有巨大枕大池的遗传性结节性异位症。
Am J Med Genet. 1993 Aug 15;47(2):268-71. doi: 10.1002/ajmg.1320470225.