Multiple Cavernous Malformations of Brain, Chest, and Skin: A Rare Case of an Infant and Literature Review
Cerebral cavernous malformations (CCMs) are vascular malformations that account for 5%–15% of all central nervous system vascular malformations. However, multiple CCMs, which can be sporadic or familial, are rare, with a prevalence of 0.1%–0.5%. Here, we presented a rare case of sporadic multiple CC...
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description | Cerebral cavernous malformations (CCMs) are vascular malformations that account for 5%–15% of all central nervous system vascular malformations. However, multiple CCMs, which can be sporadic or familial, are rare, with a prevalence of 0.1%–0.5%.
Here, we presented a rare case of sporadic multiple CCMs in an infant, which were accompanied with multiple cavernous malformations of the chest and skin.
CCMs were pathologically diagnosed through the total resection of the pineal regional lesion. We also observed a spontaneous regression of the remaining lesions during a follow-up period of 2 years. To our knowledge, this is the first case of CCMs in an infant in the English-language literature.
•We present a rare case of sporadic multiple CCMs in an infant accompanied by multiple CMs of the chest and skin.•The condition can be diagnosed on characteristic imaging or by pathologic changes.•Spontaneous regression of the remaining lesions was observed during a follow-up period of 2 years.•To our best knowledge, the case we presented is the first report to date. |
doi_str_mv | 10.1016/j.wneu.2018.08.152 |
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Here, we presented a rare case of sporadic multiple CCMs in an infant, which were accompanied with multiple cavernous malformations of the chest and skin.
CCMs were pathologically diagnosed through the total resection of the pineal regional lesion. We also observed a spontaneous regression of the remaining lesions during a follow-up period of 2 years. To our knowledge, this is the first case of CCMs in an infant in the English-language literature.
•We present a rare case of sporadic multiple CCMs in an infant accompanied by multiple CMs of the chest and skin.•The condition can be diagnosed on characteristic imaging or by pathologic changes.•Spontaneous regression of the remaining lesions was observed during a follow-up period of 2 years.•To our best knowledge, the case we presented is the first report to date.</description><identifier>ISSN: 1878-8750</identifier><identifier>EISSN: 1878-8769</identifier><identifier>DOI: 10.1016/j.wneu.2018.08.152</identifier><identifier>PMID: 30170143</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Brain Neoplasms - diagnosis ; Brain Neoplasms - genetics ; Brain Neoplasms - surgery ; Cerebral cavernous malformations ; Cerebrospinal Fluid Shunts ; Female ; Hemangioma, Cavernous, Central Nervous System - diagnosis ; Hemangioma, Cavernous, Central Nervous System - genetics ; Hemangioma, Cavernous, Central Nervous System - surgery ; Humans ; Hydrocephalus - diagnosis ; Hydrocephalus - genetics ; Hydrocephalus - surgery ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Multiple ; Neoplasm Regression, Spontaneous ; Neoplasms, Multiple Primary - diagnosis ; Neoplasms, Multiple Primary - genetics ; Neoplasms, Multiple Primary - surgery ; Pinealoma - diagnosis ; Pinealoma - genetics ; Pinealoma - surgery ; Platelet Endothelial Cell Adhesion Molecule-1 - genetics ; Pregnancy ; Regression ; Skin Neoplasms - diagnosis ; Skin Neoplasms - genetics ; Skin Neoplasms - surgery ; Thoracic Neoplasms - diagnosis ; Thoracic Neoplasms - genetics ; Tomography, X-Ray Computed ; Ultrasonography, Prenatal</subject><ispartof>World neurosurgery, 2018-12, Vol.120, p.177-180</ispartof><rights>2018 Guangzhou Women and Children's Medical Center</rights><rights>Copyright © 2018 Guangzhou Women and Children's Medical Center. Published by Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c400t-c36f5544cbf6bfc0c9ad1e149305b30aea74528d521b8160a2e690c8c6b986b23</citedby><cites>FETCH-LOGICAL-c400t-c36f5544cbf6bfc0c9ad1e149305b30aea74528d521b8160a2e690c8c6b986b23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.wneu.2018.08.152$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,3548,27922,27923,45993</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30170143$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Xu, Xinke</creatorcontrib><creatorcontrib>Li, Junliang</creatorcontrib><creatorcontrib>Chen, Cheng</creatorcontrib><creatorcontrib>Wang, Fenghua</creatorcontrib><creatorcontrib>Li, Fangcheng</creatorcontrib><title>Multiple Cavernous Malformations of Brain, Chest, and Skin: A Rare Case of an Infant and Literature Review</title><title>World neurosurgery</title><addtitle>World Neurosurg</addtitle><description>Cerebral cavernous malformations (CCMs) are vascular malformations that account for 5%–15% of all central nervous system vascular malformations. However, multiple CCMs, which can be sporadic or familial, are rare, with a prevalence of 0.1%–0.5%.
Here, we presented a rare case of sporadic multiple CCMs in an infant, which were accompanied with multiple cavernous malformations of the chest and skin.
CCMs were pathologically diagnosed through the total resection of the pineal regional lesion. We also observed a spontaneous regression of the remaining lesions during a follow-up period of 2 years. To our knowledge, this is the first case of CCMs in an infant in the English-language literature.
•We present a rare case of sporadic multiple CCMs in an infant accompanied by multiple CMs of the chest and skin.•The condition can be diagnosed on characteristic imaging or by pathologic changes.•Spontaneous regression of the remaining lesions was observed during a follow-up period of 2 years.•To our best knowledge, the case we presented is the first report to date.</description><subject>Brain Neoplasms - diagnosis</subject><subject>Brain Neoplasms - genetics</subject><subject>Brain Neoplasms - surgery</subject><subject>Cerebral cavernous malformations</subject><subject>Cerebrospinal Fluid Shunts</subject><subject>Female</subject><subject>Hemangioma, Cavernous, Central Nervous System - diagnosis</subject><subject>Hemangioma, Cavernous, Central Nervous System - genetics</subject><subject>Hemangioma, Cavernous, Central Nervous System - surgery</subject><subject>Humans</subject><subject>Hydrocephalus - diagnosis</subject><subject>Hydrocephalus - genetics</subject><subject>Hydrocephalus - surgery</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Multiple</subject><subject>Neoplasm Regression, Spontaneous</subject><subject>Neoplasms, Multiple Primary - diagnosis</subject><subject>Neoplasms, Multiple Primary - genetics</subject><subject>Neoplasms, Multiple Primary - surgery</subject><subject>Pinealoma - diagnosis</subject><subject>Pinealoma - genetics</subject><subject>Pinealoma - surgery</subject><subject>Platelet Endothelial Cell Adhesion Molecule-1 - genetics</subject><subject>Pregnancy</subject><subject>Regression</subject><subject>Skin Neoplasms - diagnosis</subject><subject>Skin Neoplasms - genetics</subject><subject>Skin Neoplasms - surgery</subject><subject>Thoracic Neoplasms - diagnosis</subject><subject>Thoracic Neoplasms - genetics</subject><subject>Tomography, X-Ray Computed</subject><subject>Ultrasonography, Prenatal</subject><issn>1878-8750</issn><issn>1878-8769</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kL1OwzAYRS0EAgR9AQbkkYGGz_l1EAtU_FRqhVRgthzni3BInGInRbw9DgVGvNjDuVe-h5ATBgEDll7UwYfBIQiB8QB4wJJwhxwynvEpz9J89--dwAGZOFeDPxGLeRbtk4MIWAYsjg5JvRyaXq8bpDO5QWu6wdGlbKrOtrLXnXG0q-iNldqc09kruv6cSlPSpzdtLuk1XUk7Jh2OmDR0bipp-m9koXu0sh88sMKNxo9jslfJxuHk5z4iL3e3z7OH6eLxfj67XkxVDNBPVZRWSRLHqqjSolKgclkyZHEeQVJEIFFmcRLyMglZwVkKMsQ0B8VVWuQ8LcLoiJxte9e2ex_8l0WrncKmkQb9PBFCzrMMsnhEwy2qbOecxUqsrW6l_RQMxKhZ1GLULEbNArjwmn3o9Kd_KFos_yK_Uj1wtQXQr_TLrXBKo1FYaouqF2Wn_-v_ApOUjTI</recordid><startdate>201812</startdate><enddate>201812</enddate><creator>Xu, Xinke</creator><creator>Li, Junliang</creator><creator>Chen, Cheng</creator><creator>Wang, Fenghua</creator><creator>Li, Fangcheng</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201812</creationdate><title>Multiple Cavernous Malformations of Brain, Chest, and Skin: A Rare Case of an Infant and Literature Review</title><author>Xu, Xinke ; Li, Junliang ; Chen, Cheng ; Wang, Fenghua ; Li, Fangcheng</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c400t-c36f5544cbf6bfc0c9ad1e149305b30aea74528d521b8160a2e690c8c6b986b23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Brain Neoplasms - diagnosis</topic><topic>Brain Neoplasms - genetics</topic><topic>Brain Neoplasms - surgery</topic><topic>Cerebral cavernous malformations</topic><topic>Cerebrospinal Fluid Shunts</topic><topic>Female</topic><topic>Hemangioma, Cavernous, Central Nervous System - diagnosis</topic><topic>Hemangioma, Cavernous, Central Nervous System - genetics</topic><topic>Hemangioma, Cavernous, Central Nervous System - surgery</topic><topic>Humans</topic><topic>Hydrocephalus - diagnosis</topic><topic>Hydrocephalus - genetics</topic><topic>Hydrocephalus - surgery</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Multiple</topic><topic>Neoplasm Regression, Spontaneous</topic><topic>Neoplasms, Multiple Primary - diagnosis</topic><topic>Neoplasms, Multiple Primary - genetics</topic><topic>Neoplasms, Multiple Primary - surgery</topic><topic>Pinealoma - diagnosis</topic><topic>Pinealoma - genetics</topic><topic>Pinealoma - surgery</topic><topic>Platelet Endothelial Cell Adhesion Molecule-1 - genetics</topic><topic>Pregnancy</topic><topic>Regression</topic><topic>Skin Neoplasms - diagnosis</topic><topic>Skin Neoplasms - genetics</topic><topic>Skin Neoplasms - surgery</topic><topic>Thoracic Neoplasms - diagnosis</topic><topic>Thoracic Neoplasms - genetics</topic><topic>Tomography, X-Ray Computed</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Xu, Xinke</creatorcontrib><creatorcontrib>Li, Junliang</creatorcontrib><creatorcontrib>Chen, Cheng</creatorcontrib><creatorcontrib>Wang, Fenghua</creatorcontrib><creatorcontrib>Li, Fangcheng</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>World neurosurgery</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Xu, Xinke</au><au>Li, Junliang</au><au>Chen, Cheng</au><au>Wang, Fenghua</au><au>Li, Fangcheng</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Multiple Cavernous Malformations of Brain, Chest, and Skin: A Rare Case of an Infant and Literature Review</atitle><jtitle>World neurosurgery</jtitle><addtitle>World Neurosurg</addtitle><date>2018-12</date><risdate>2018</risdate><volume>120</volume><spage>177</spage><epage>180</epage><pages>177-180</pages><issn>1878-8750</issn><eissn>1878-8769</eissn><abstract>Cerebral cavernous malformations (CCMs) are vascular malformations that account for 5%–15% of all central nervous system vascular malformations. However, multiple CCMs, which can be sporadic or familial, are rare, with a prevalence of 0.1%–0.5%.
Here, we presented a rare case of sporadic multiple CCMs in an infant, which were accompanied with multiple cavernous malformations of the chest and skin.
CCMs were pathologically diagnosed through the total resection of the pineal regional lesion. We also observed a spontaneous regression of the remaining lesions during a follow-up period of 2 years. To our knowledge, this is the first case of CCMs in an infant in the English-language literature.
•We present a rare case of sporadic multiple CCMs in an infant accompanied by multiple CMs of the chest and skin.•The condition can be diagnosed on characteristic imaging or by pathologic changes.•Spontaneous regression of the remaining lesions was observed during a follow-up period of 2 years.•To our best knowledge, the case we presented is the first report to date.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>30170143</pmid><doi>10.1016/j.wneu.2018.08.152</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Brain Neoplasms - diagnosis Brain Neoplasms - genetics Brain Neoplasms - surgery Cerebral cavernous malformations Cerebrospinal Fluid Shunts Female Hemangioma, Cavernous, Central Nervous System - diagnosis Hemangioma, Cavernous, Central Nervous System - genetics Hemangioma, Cavernous, Central Nervous System - surgery Humans Hydrocephalus - diagnosis Hydrocephalus - genetics Hydrocephalus - surgery Infant Infant, Newborn Magnetic Resonance Imaging Male Multiple Neoplasm Regression, Spontaneous Neoplasms, Multiple Primary - diagnosis Neoplasms, Multiple Primary - genetics Neoplasms, Multiple Primary - surgery Pinealoma - diagnosis Pinealoma - genetics Pinealoma - surgery Platelet Endothelial Cell Adhesion Molecule-1 - genetics Pregnancy Regression Skin Neoplasms - diagnosis Skin Neoplasms - genetics Skin Neoplasms - surgery Thoracic Neoplasms - diagnosis Thoracic Neoplasms - genetics Tomography, X-Ray Computed Ultrasonography, Prenatal |
title | Multiple Cavernous Malformations of Brain, Chest, and Skin: A Rare Case of an Infant and Literature Review |
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