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How early is too early? Diagnosis of tuberous sclerosis complex in a neonate.

作者信息

Prashanth R R, Nair S, Haribalakrishna A, Thakkar H

机构信息

Department of Neonatology, Seth G.S. Medical College and K.E.M. Hospital, Mumbai, Maharashtra, India.

Department of Radiology, Seth G.S. Medical College and K.E.M. Hospital, Mumbai, Maharashtra, India.

出版信息

J Postgrad Med. 2023 Oct-Dec;69(4):243-244. doi: 10.4103/jpgm.jpgm_326_23.

DOI:10.4103/jpgm.jpgm_326_23
PMID:37675664
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10846816/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c326/10846816/b88c37e2e044/JPGM-69-243-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c326/10846816/c28ec29b0a1f/JPGM-69-243-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c326/10846816/b88c37e2e044/JPGM-69-243-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c326/10846816/c28ec29b0a1f/JPGM-69-243-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c326/10846816/b88c37e2e044/JPGM-69-243-g002.jpg

相似文献

1
How early is too early? Diagnosis of tuberous sclerosis complex in a neonate.多早算太早?新生儿结节性硬化症的诊断。
J Postgrad Med. 2023 Oct-Dec;69(4):243-244. doi: 10.4103/jpgm.jpgm_326_23.
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Tuberous sclerosis complex and neonatal seizures.结节性硬化症与新生儿惊厥。
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Clinical presentation and diagnosis of tuberous sclerosis complex in infancy.婴儿期结节性硬化症复合体的临床表现与诊断
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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.结节性硬化症共识会议:修订后的临床诊断标准
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Clinically silent seizures in a neonate with tuberous sclerosis.患有结节性硬化症的新生儿的临床无症状性癫痫发作。
Pediatr Int. 2016 Jan;58(1):58-61. doi: 10.1111/ped.12738. Epub 2015 Dec 29.
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Tuberous sclerosis in infancy.婴儿期结节性硬化症。
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Tuberous sclerosis complex with a single brain lesion on MRI mimicking focal cortical dysplasia.磁共振成像显示单一脑病变的结节性硬化症,类似于局灶性皮质发育不良。
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[Multiple cardiac rhabdomyomas revealing tuberous sclerosis in a neonate].[新生儿多发性心脏横纹肌瘤提示结节性硬化症]
Arch Pediatr. 2017 Dec;24(12):1321-1323. doi: 10.1016/j.arcped.2017.09.028. Epub 2017 Nov 16.

本文引用的文献

1
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.
2
Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role.结节性硬化症的皮肤表现及儿科医生的作用。
Arch Dis Child. 2017 Sep;102(9):858-863. doi: 10.1136/archdischild-2016-312001. Epub 2017 Mar 28.
3
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.
依维莫司辅助治疗伴结节性硬化症的耐药性局灶性癫痫发作(EXIST-3):一项 3 期、随机、双盲、安慰剂对照研究。
Lancet. 2016 Oct 29;388(10056):2153-2163. doi: 10.1016/S0140-6736(16)31419-2. Epub 2016 Sep 6.
4
The clinical characteristics of subependymal giant cell astrocytoma: five cases.室管膜下巨细胞星形细胞瘤的临床特征:5例报告
Brain Tumor Res Treat. 2015 Apr;3(1):44-7. doi: 10.14791/btrt.2015.3.1.44. Epub 2015 Apr 29.
5
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.结节性硬化症综合诊断标准更新:2012 年国际结节性硬化症共识会议推荐。
Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001.