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冰山一角:颅骨骨折作为脑颅皮肤脂肪瘤病的成人表现

Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis.

作者信息

Culleton Sinead, Barras Christen D, Asadi Hamed, Looby Seamus, Brennan Paul, Kok Hong Kuan

机构信息

Neuroradiology and Neurointerventional Service, Department of Radiology, Beaumont Hospital, Dublin 9, Ireland.

Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Radiology, The University of Melbourne, Parkville, VIC 3050, Australia.

出版信息

Case Rep Neurol Med. 2016;2016:3292654. doi: 10.1155/2016/3292654. Epub 2016 Nov 2.

DOI:10.1155/2016/3292654
PMID:27882255
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5110876/
Abstract

The severity of seizures presenting to the emergency department ranges from benign to life threatening. There are also a wide number of possible etiologies. Computed tomography (CT) emergency imaging may be required at presentation to elucidate a possible cause and assess signs of intracranial trauma. This case describes a serious seizure episode in a young man while on holiday. A CT brain showed a skull fracture as a consequence of seizure-related head trauma but unexpectedly there were image findings consistent with encephalocraniocutaneous lipomatosis. The important radiological features of encephalocraniocutaneous lipomatosis and a differential diagnosis are presented.

摘要

前往急诊科就诊的癫痫发作严重程度从良性到危及生命不等。其病因也有很多种。就诊时可能需要进行计算机断层扫描(CT)急诊成像,以明确可能的病因并评估颅内创伤迹象。本病例描述了一名年轻男子在度假时发生的一次严重癫痫发作。脑部CT显示因癫痫相关头部创伤导致颅骨骨折,但意外的是,影像结果与脑颅皮肤脂肪瘤病相符。文中介绍了脑颅皮肤脂肪瘤病的重要放射学特征及鉴别诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece4/5110876/5bac5092bcc2/CRINM2016-3292654.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece4/5110876/05d32f0c56c0/CRINM2016-3292654.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece4/5110876/e2c6b39e6c12/CRINM2016-3292654.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece4/5110876/5bac5092bcc2/CRINM2016-3292654.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece4/5110876/05d32f0c56c0/CRINM2016-3292654.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece4/5110876/e2c6b39e6c12/CRINM2016-3292654.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece4/5110876/5bac5092bcc2/CRINM2016-3292654.003.jpg

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本文引用的文献

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Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement.脑颅皮肤脂肪瘤病(哈伯兰德综合征):一例累及双侧皮肤和眼部的轻症病例。
JAAD Case Rep. 2016 Apr 15;2(2):150-2. doi: 10.1016/j.jdcr.2016.02.001. eCollection 2016 Mar.
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.FGFR1基因的镶嵌激活突变导致脑颜面皮肤脂肪瘤病。
Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006.
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