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患有心脏内肿块和多种癫痫发作类型的儿童。横纹肌瘤、结节性硬化症和可能的 Lennox-Gastaut 综合征——一例罕见病例报告。

Child with intra cardiac masses and multiple seizure types. Rhabdomyoma, Tuberous sclerosis and possible Lennox-Gastaut syndrome - A rare case report.

作者信息

Mahaseth Aditya

机构信息

Internal Medicine, DM Cardiology, Department of Cardiology, Shahid Gangalal National Heart Centre, Nepal.

Internal Medicine, DM Neurology, Department of Neurology, National Neuro Centre, Nepal.

出版信息

Int J Cardiol Congenit Heart Dis. 2022 Nov 21;11:100425. doi: 10.1016/j.ijcchd.2022.100425. eCollection 2023 Mar.

DOI:10.1016/j.ijcchd.2022.100425
PMID:39713575
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11657407/
Abstract

Rhabdomyoma are the most common benign cardiac tumors. These are tumors with favorable prognosis because they frequently do not cause symptoms and they often regress in numbers and size. Due to frequent association with tuberous sclerosis complex and the resulting neurological impairment, the prognosis can be unfavorable. Here we report a case of a 7 months old boy who was diagnosed as cardiac rhabdomyoma during fetal life by fetal echocardiography and later went on to develop seizures as a part of tuberous sclerosis complex at 6 months of age. This report also highlights the difficulties in obtaining a diagnosis and practicing the latest evidence based treatment in low income underdeveloped country like nepal especially in patients belonging to the lower socioeconomic class due to financial shortages and lack of resources.

摘要

横纹肌瘤是最常见的心脏良性肿瘤。这些肿瘤预后良好,因为它们通常不会引起症状,而且数量和大小常常会自行消退。由于常与结节性硬化症相关并导致神经功能障碍,其预后可能不佳。我们在此报告一例7个月大男孩的病例,该男孩在胎儿期通过胎儿超声心动图被诊断为心脏横纹肌瘤,后来在6个月大时作为结节性硬化症的一部分出现癫痫发作。本报告还强调了在尼泊尔这样的低收入不发达国家,尤其是对于社会经济地位较低阶层的患者,由于资金短缺和资源匮乏,在进行诊断和实施最新的循证治疗时所面临的困难。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/c09aa2fce196/gr7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/e71afa147d29/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/f1365923551c/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/c52b0e9ea05f/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/6ba921993288/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/69ff0ce6b887/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/1ab797994bf1/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/c09aa2fce196/gr7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/e71afa147d29/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/f1365923551c/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/c52b0e9ea05f/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/6ba921993288/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/69ff0ce6b887/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/1ab797994bf1/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c23/11657407/c09aa2fce196/gr7.jpg

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本文引用的文献

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Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?早诊结节性硬化症:与时间赛跑。如何在癫痫发作前做出诊断?
Orphanet J Rare Dis. 2018 Jan 29;13(1):25. doi: 10.1186/s13023-018-0764-z.
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Lennox-Gastaut syndrome: a comprehensive review.朗格汉斯细胞组织细胞增生症:全面综述。
Neurol Sci. 2018 Mar;39(3):403-414. doi: 10.1007/s10072-017-3188-y. Epub 2017 Nov 9.
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