Congenital focal lymphedema as a diagnostic clue to tuberous sclerosis complex: report of two cases diagnosed by ultrasound.
Identifieur interne : 001074 ( PubMed/Curation ); précédent : 001073; suivant : 001075Congenital focal lymphedema as a diagnostic clue to tuberous sclerosis complex: report of two cases diagnosed by ultrasound.
Auteurs : Sodai Hoshiai [Japon] ; Eiji Oguma ; Yumiko Sato ; Takahiro Konishi ; Manabu MinamiSource :
- Skeletal radiology [ 1432-2161 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
- imagerie diagnostique : Lymphoedème, Sclérose tubéreuse du cerveau.
- Diagnostic différentiel, Femelle, Humains, Lymphoedème, Nourrisson, Nouveau-né, Sclérose tubéreuse du cerveau, Échographie.
English descriptors
- KwdEn :
- MESH :
- congenital : Lymphedema, Tuberous Sclerosis.
- diagnostic imaging : Lymphedema, Tuberous Sclerosis.
- methods : Ultrasonography.
- Diagnosis, Differential, Female, Humans, Infant, Infant, Newborn.
Abstract
Tuberous sclerosis complex (TSC) is a familial disorder characterized by benign hamartomas in the brain and other organs. Generally, the diagnosis of TSC is relatively easy, based on a medical history, a physical examination, and imaging findings. However, it can be difficult to consider a possibility of TSC in neonates and infants when congenital lymphedema is the sole external manifestation, because lymphedema associated with TSC is extremely rare. Herein, we report two cases of TSC showing congenital lymphedema at the initial presentation. Both patients were girls, and their sole complaint was congenital lymphedema. We diagnosed TSC using ultrasound focusing on the kidney, heart, and brain in addition to the extremity showing lymphedema. Awareness of a potential association of congenital lymphedema with TSC may assist in the diagnosis of TSC by ultrasound.
DOI: 10.1007/s00256-015-2094-8
PubMed: 25616615
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cerveau</term><term>Échographie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Tuberous sclerosis complex (TSC) is a familial disorder characterized by benign hamartomas in the brain and other organs. Generally, the diagnosis of TSC is relatively easy, based on a medical history, a physical examination, and imaging findings. However, it can be difficult to consider a possibility of TSC in neonates and infants when congenital lymphedema is the sole external manifestation, because lymphedema associated with TSC is extremely rare. Herein, we report two cases of TSC showing congenital lymphedema at the initial presentation. Both patients were girls, and their sole complaint was congenital lymphedema. We diagnosed TSC using ultrasound focusing on the kidney, heart, and brain in addition to the extremity showing lymphedema. Awareness of a potential association of congenital lymphedema with TSC may assist in the diagnosis of TSC by ultrasound.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25616615</PMID><DateCreated><Year>2015</Year><Month>06</Month><Day>20</Day></DateCreated><DateCompleted><Year>2016</Year><Month>04</Month><Day>11</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1432-2161</ISSN><JournalIssue CitedMedium="Internet"><Volume>44</Volume><Issue>8</Issue><PubDate><Year>2015</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Skeletal radiology</Title><ISOAbbreviation>Skeletal Radiol.</ISOAbbreviation></Journal><ArticleTitle>Congenital focal lymphedema as a diagnostic clue to tuberous sclerosis complex: report of two cases diagnosed by ultrasound.</ArticleTitle><Pagination><MedlinePgn>1165-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s00256-015-2094-8</ELocationID><Abstract><AbstractText>Tuberous sclerosis complex (TSC) is a familial disorder characterized by benign hamartomas in the brain and other organs. Generally, the diagnosis of TSC is relatively easy, based on a medical history, a physical examination, and imaging findings. However, it can be difficult to consider a possibility of TSC in neonates and infants when congenital lymphedema is the sole external manifestation, because lymphedema associated with TSC is extremely rare. Herein, we report two cases of TSC showing congenital lymphedema at the initial presentation. Both patients were girls, and their sole complaint was congenital lymphedema. We diagnosed TSC using ultrasound focusing on the kidney, heart, and brain in addition to the extremity showing lymphedema. Awareness of a potential association of congenital lymphedema with TSC may assist in the diagnosis of TSC by ultrasound.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hoshiai</LastName><ForeName>Sodai</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Radiology, Saitama Children's Medical Center, 2100 Magome, Iwatsuki, Saitama, Japan, hoshiai@sb4.so-net.ne.jp.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Oguma</LastName><ForeName>Eiji</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Sato</LastName><ForeName>Yumiko</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Konishi</LastName><ForeName>Takahiro</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Minami</LastName><ForeName>Manabu</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>01</Month><Day>24</Day></ArticleDate></Article><MedlineJournalInfo><Country>Germany</Country><MedlineTA>Skeletal Radiol</MedlineTA><NlmUniqueID>7701953</NlmUniqueID><ISSNLinking>0364-2348</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D003937" MajorTopicYN="N">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000000981" MajorTopicYN="Y">diagnostic imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014402" MajorTopicYN="N">Tuberous Sclerosis</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000000981" MajorTopicYN="Y">diagnostic imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014463" MajorTopicYN="N">Ultrasonography</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>09</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>01</Month><Day>02</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>11</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>1</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>1</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>4</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25616615</ArticleId><ArticleId IdType="doi">10.1007/s00256-015-2094-8</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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