Loading…

Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome

: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3‐year‐old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infant...

Full description

Saved in:

Bibliographic Details
Published in:	Journal of paediatrics and child health 2000-12, Vol.36 (6), p.603-605
Main Authors:	Amor, D J, Kornberg, A J, Smith, L J
Format:	Article
Language:	English
Subjects:	Biological and medical sciences Brain - abnormalities Calcinosis Cerebral Cortex - pathology cortical dysgenesis Dermatology Dermoid Cyst encephalocraniocutaneous lipomatosis Eye Diseases Fishman syndrome Humans Infant Lipomatosis Magnetic Resonance Imaging Male Medical sciences naevus psiloparus Nervous system involvement in other diseases. Miscellaneous neurocutaneous syndromes Neurology Scalp Seizures Syndrome Tropical medicine Tumors of the skin and soft tissue. Premalignant lesions
Citations:	Items that this one cites Items that cite this one
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

cited_by	cdi_FETCH-LOGICAL-c4601-9edd757ad9373c8c32872961681cf30e80e36ae24d20627921d98c8ddacbeac83
cites	cdi_FETCH-LOGICAL-c4601-9edd757ad9373c8c32872961681cf30e80e36ae24d20627921d98c8ddacbeac83
container_end_page	605
container_issue	6
container_start_page	603
container_title	Journal of paediatrics and child health
container_volume	36
creator	Amor, D J Kornberg, A J Smith, L J
description	: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3‐year‐old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.
doi_str_mv	10.1046/j.1440-1754.2000.00541.x
format	article
fullrecord	<record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_72501881</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>72501881</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4601-9edd757ad9373c8c32872961681cf30e80e36ae24d20627921d98c8ddacbeac83</originalsourceid><addsrcrecordid>eNqNkMtOwzAQRS0EoqXwCygbECwSxo4TO4hNVbU8VAkWIJaWaztqqjyK3Yj273FJoSzxZkaacz2jg1CAIcJA05tFhCmFELOERgQAIoCE4mh9gPq_g0PfQ0xDyjH00IlzCw-SJOHHqIf9S4CSPnof18os57JslJV10ah2JWvTtC4oi2VTyVXjChdcTQo3r2QduE2tbVOZ69tgGFhpTVCb1v5J_QCn6CiXpTNnuzpAb5Px6-ghnD7fP46G01DRFHCYGa1ZwqTOYhYrrmLCGclSnHKs8hgMBxOn0hCqCaSEZQTrjCuutVQzIxWPB-iy-3dpm4_WuJWoCqdMWXb3CEYSwJxjD_IOVLZxzppcLG1RSbsRGMRWqliIrTuxdSe2UsW3VLH20fPdjnZWGb0P7ix64GIHSKdkmXuTqnB7jmJgjFDP3XXcZ1Gazb8PEE8vI9_EX58ykwQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>72501881</pqid></control><display><type>article</type><title>Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome</title><source>Wiley</source><creator>Amor, D J ; Kornberg, A J ; Smith, L J</creator><creatorcontrib>Amor, D J ; Kornberg, A J ; Smith, L J</creatorcontrib><description>: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3‐year‐old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.</description><identifier>ISSN: 1034-4810</identifier><identifier>EISSN: 1440-1754</identifier><identifier>DOI: 10.1046/j.1440-1754.2000.00541.x</identifier><identifier>PMID: 11115042</identifier><language>eng</language><publisher>Melbourne, Australia: Blackwell Science Pty</publisher><subject>Biological and medical sciences ; Brain - abnormalities ; Calcinosis ; Cerebral Cortex - pathology ; cortical dysgenesis ; Dermatology ; Dermoid Cyst ; encephalocraniocutaneous lipomatosis ; Eye Diseases ; Fishman syndrome ; Humans ; Infant ; Lipomatosis ; Magnetic Resonance Imaging ; Male ; Medical sciences ; naevus psiloparus ; Nervous system involvement in other diseases. Miscellaneous ; neurocutaneous syndromes ; Neurology ; Scalp ; Seizures ; Syndrome ; Tropical medicine ; Tumors of the skin and soft tissue. Premalignant lesions</subject><ispartof>Journal of paediatrics and child health, 2000-12, Vol.36 (6), p.603-605</ispartof><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4601-9edd757ad9373c8c32872961681cf30e80e36ae24d20627921d98c8ddacbeac83</citedby><cites>FETCH-LOGICAL-c4601-9edd757ad9373c8c32872961681cf30e80e36ae24d20627921d98c8ddacbeac83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14107724$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11115042$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Amor, D J</creatorcontrib><creatorcontrib>Kornberg, A J</creatorcontrib><creatorcontrib>Smith, L J</creatorcontrib><title>Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome</title><title>Journal of paediatrics and child health</title><addtitle>J Paediatr Child Health</addtitle><description>: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3‐year‐old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.</description><subject>Biological and medical sciences</subject><subject>Brain - abnormalities</subject><subject>Calcinosis</subject><subject>Cerebral Cortex - pathology</subject><subject>cortical dysgenesis</subject><subject>Dermatology</subject><subject>Dermoid Cyst</subject><subject>encephalocraniocutaneous lipomatosis</subject><subject>Eye Diseases</subject><subject>Fishman syndrome</subject><subject>Humans</subject><subject>Infant</subject><subject>Lipomatosis</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>naevus psiloparus</subject><subject>Nervous system involvement in other diseases. Miscellaneous</subject><subject>neurocutaneous syndromes</subject><subject>Neurology</subject><subject>Scalp</subject><subject>Seizures</subject><subject>Syndrome</subject><subject>Tropical medicine</subject><subject>Tumors of the skin and soft tissue. Premalignant lesions</subject><issn>1034-4810</issn><issn>1440-1754</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><recordid>eNqNkMtOwzAQRS0EoqXwCygbECwSxo4TO4hNVbU8VAkWIJaWaztqqjyK3Yj273FJoSzxZkaacz2jg1CAIcJA05tFhCmFELOERgQAIoCE4mh9gPq_g0PfQ0xDyjH00IlzCw-SJOHHqIf9S4CSPnof18os57JslJV10ah2JWvTtC4oi2VTyVXjChdcTQo3r2QduE2tbVOZ69tgGFhpTVCb1v5J_QCn6CiXpTNnuzpAb5Px6-ghnD7fP46G01DRFHCYGa1ZwqTOYhYrrmLCGclSnHKs8hgMBxOn0hCqCaSEZQTrjCuutVQzIxWPB-iy-3dpm4_WuJWoCqdMWXb3CEYSwJxjD_IOVLZxzppcLG1RSbsRGMRWqliIrTuxdSe2UsW3VLH20fPdjnZWGb0P7ix64GIHSKdkmXuTqnB7jmJgjFDP3XXcZ1Gazb8PEE8vI9_EX58ykwQ</recordid><startdate>200012</startdate><enddate>200012</enddate><creator>Amor, D J</creator><creator>Kornberg, A J</creator><creator>Smith, L J</creator><general>Blackwell Science Pty</general><general>Blackwell</general><scope>IQODW</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>200012</creationdate><title>Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome</title><author>Amor, D J ; Kornberg, A J ; Smith, L J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4601-9edd757ad9373c8c32872961681cf30e80e36ae24d20627921d98c8ddacbeac83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Biological and medical sciences</topic><topic>Brain - abnormalities</topic><topic>Calcinosis</topic><topic>Cerebral Cortex - pathology</topic><topic>cortical dysgenesis</topic><topic>Dermatology</topic><topic>Dermoid Cyst</topic><topic>encephalocraniocutaneous lipomatosis</topic><topic>Eye Diseases</topic><topic>Fishman syndrome</topic><topic>Humans</topic><topic>Infant</topic><topic>Lipomatosis</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>naevus psiloparus</topic><topic>Nervous system involvement in other diseases. Miscellaneous</topic><topic>neurocutaneous syndromes</topic><topic>Neurology</topic><topic>Scalp</topic><topic>Seizures</topic><topic>Syndrome</topic><topic>Tropical medicine</topic><topic>Tumors of the skin and soft tissue. Premalignant lesions</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Amor, D J</creatorcontrib><creatorcontrib>Kornberg, A J</creatorcontrib><creatorcontrib>Smith, L J</creatorcontrib><collection>Pascal-Francis</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>Journal of paediatrics and child health</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Amor, D J</au><au>Kornberg, A J</au><au>Smith, L J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome</atitle><jtitle>Journal of paediatrics and child health</jtitle><addtitle>J Paediatr Child Health</addtitle><date>2000-12</date><risdate>2000</risdate><volume>36</volume><issue>6</issue><spage>603</spage><epage>605</epage><pages>603-605</pages><issn>1034-4810</issn><eissn>1440-1754</eissn><abstract>: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3‐year‐old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.</abstract><cop>Melbourne, Australia</cop><pub>Blackwell Science Pty</pub><pmid>11115042</pmid><doi>10.1046/j.1440-1754.2000.00541.x</doi><tpages>3</tpages></addata></record>
fulltext	fulltext
identifier	ISSN: 1034-4810
ispartof	Journal of paediatrics and child health, 2000-12, Vol.36 (6), p.603-605
issn	1034-4810 1440-1754
language	eng
recordid	cdi_proquest_miscellaneous_72501881
source	Wiley
subjects	Biological and medical sciences Brain - abnormalities Calcinosis Cerebral Cortex - pathology cortical dysgenesis Dermatology Dermoid Cyst encephalocraniocutaneous lipomatosis Eye Diseases Fishman syndrome Humans Infant Lipomatosis Magnetic Resonance Imaging Male Medical sciences naevus psiloparus Nervous system involvement in other diseases. Miscellaneous neurocutaneous syndromes Neurology Scalp Seizures Syndrome Tropical medicine Tumors of the skin and soft tissue. Premalignant lesions
title	Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
url	http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-13T19%3A46%3A49IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Encephalocraniocutaneous%20lipomatosis%20(Fishman%20syndrome):%20A%20rare%20neurocutaneous%20syndrome&rft.jtitle=Journal%20of%20paediatrics%20and%20child%20health&rft.au=Amor,%20D%20J&rft.date=2000-12&rft.volume=36&rft.issue=6&rft.spage=603&rft.epage=605&rft.pages=603-605&rft.issn=1034-4810&rft.eissn=1440-1754&rft_id=info:doi/10.1046/j.1440-1754.2000.00541.x&rft_dat=%3Cproquest_cross%3E72501881%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c4601-9edd757ad9373c8c32872961681cf30e80e36ae24d20627921d98c8ddacbeac83%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=72501881&rft_id=info:pmid/11115042&rfr_iscdi=true