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新生儿结节性硬化症的临床表现与诊断：一例病例报告及文献综述

Presentation and diagnosis of neonatal tuberous sclerosis complex: A case report and literature review.

作者信息

Karki Susmin, Bhatta Pramish, Parajuli Asmita, Kumari Khusbu, Rijal Divas, Harrylal Kayleigh Anjali, Gautam Shristi, Sharma Arun Kumar

机构信息

Maharajgunj Medical Campus, Tribhuvan University Institute of Medicine, Kathmandu, Nepal.

College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

出版信息

SAGE Open Med Case Rep. 2024 May 6;12:2050313X241252342. doi: 10.1177/2050313X241252342. eCollection 2024.

DOI:10.1177/2050313X241252342
PMID:38715902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11075594/
Abstract

Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by hamartomatous growths with unpredictable progression. Diagnosing and managing neonatal tuberous sclerosis can be challenging. We report a rare case of a 30-day-old male born out of a non-consanguineous marriage who presented with poor suckling and persistent abnormal body movement, required prolonged intensive care, and was diagnosed with tuberous sclerosis with multisystem involvement.

摘要

结节性硬化症是一种罕见的神经皮肤综合征，其特征为错构瘤性生长，进展不可预测。诊断和管理新生儿结节性硬化症具有挑战性。我们报告了一例罕见病例，一名30天大的男性，非近亲结婚出生，出现吸吮无力和持续性异常身体运动，需要长期重症监护，被诊断为多系统受累的结节性硬化症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c75a/11075594/06544d305d11/10.1177_2050313X241252342-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c75a/11075594/3fda29beb34c/10.1177_2050313X241252342-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c75a/11075594/ad8369a80a1e/10.1177_2050313X241252342-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c75a/11075594/06544d305d11/10.1177_2050313X241252342-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c75a/11075594/3fda29beb34c/10.1177_2050313X241252342-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c75a/11075594/ad8369a80a1e/10.1177_2050313X241252342-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c75a/11075594/06544d305d11/10.1177_2050313X241252342-fig3.jpg

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本文引用的文献

1
A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.一项关于结节性硬化症患儿长期神经发育结局的单中心观察性研究。
Orphanet J Rare Dis. 2023 Nov 9;18(1):349. doi: 10.1186/s13023-023-02959-0.
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Editorial: Tuberous Sclerosis Complex - Diagnosis and Management.社论：结节性硬化症——诊断与管理
Front Neurol. 2021 Oct 5;12:755868. doi: 10.3389/fneur.2021.755868. eCollection 2021.
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Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation.
早发型结节性硬化症的基因变异所致新生儿的早期诊断。
J Int Med Res. 2021 Aug;49(8):3000605211035895. doi: 10.1177/03000605211035895.
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Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World.超越指南：我们如何改善全球结节性硬化症患者的医疗保健。
Pediatr Neurol. 2021 Oct;123:77-84. doi: 10.1016/j.pediatrneurol.2021.07.010. Epub 2021 Jul 26.
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Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine.结节性硬化症相关癫痫的治疗选择综述：迈向精准医学
Ther Adv Neurol Disord. 2021 Jul 17;14:17562864211031100. doi: 10.1177/17562864211031100. eCollection 2021.
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Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.EPISTOP 试验中婴儿结节性硬化症的癫痫预防。
Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27.
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A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene.一例在宫内发现的严重结节性硬化症病例，并与 TSC2 基因的一个新的重复有关。
BMC Neurol. 2020 Sep 1;20(1):324. doi: 10.1186/s12883-020-01905-y.
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Tuberous Sclerosis Complex: Early Diagnosis in Infants.结节性硬化症：婴儿的早期诊断
Pediatr Neurol Briefs. 2018 Oct 17;32:12. doi: 10.15844/pedneurbriefs-32-12.
9
Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study.结节性硬化症的发病率和首次诊断年龄：来自一项全国性前瞻性监测研究的新数据和新趋势。
Orphanet J Rare Dis. 2018 Jul 17;13(1):117. doi: 10.1186/s13023-018-0870-y.
10
mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders.mTOR抑制剂在结节性硬化症药物治疗中的应用及其在其他罕见神经发育障碍中的潜在作用。
Orphanet J Rare Dis. 2017 Mar 14;12(1):51. doi: 10.1186/s13023-017-0596-2.