{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T13:10:11Z","timestamp":1756386611583,"version":"3.44.0"},"reference-count":4,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,1,30]]},"abstract":"<jats:p>Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in <jats:italic>ANKH<\/jats:italic> or <jats:italic>GJA1<\/jats:italic> genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expansive lesion of undetermined nature. Brain biopsy revealed active demyelinating lesions, consistent with multiple sclerosis. The genetic screening of target genes for CMD (<jats:italic>ANKH<\/jats:italic> and <jats:italic>GJA1<\/jats:italic>) resulted negative in this patient. The peculiar clinical association and the negativity of genetic analyses allow to hypothesise that other genetic causes, not already known, are responsible for the combination of these pathological conditions. Future studies aim to identify the genetic causes of CMD, which will be important to further understand the pathogenetic mechanism of this rare and invalidating disease.<\/jats:p>","DOI":"10.1136\/bcr-2017-223390","type":"journal-article","created":{"date-parts":[[2018,2,14]],"date-time":"2018-02-14T08:40:33Z","timestamp":1518597633000},"page":"bcr-2017-223390","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia"],"prefix":"10.1136","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4102-1188","authenticated-orcid":false,"given":"Jacopo C","family":"DiFrancesco","sequence":"first","affiliation":[{"name":"Department of Neurology and Laboratory of Neurobiology, SanGerardo Hospital, University of Milano-Bicocca, Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Isimbaldi","sequence":"additional","affiliation":[{"name":"Department of Pathology, San Gerardo Hospital, Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Francesca","family":"Bedeschi","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Castellotti","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Fondazione \"Istituto Neurologico C Besta\", Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,2,14]]},"reference":[{"key":"2025082805323966000_2018.feb13_1.bcr-2017-223390.1","doi-asserted-by":"publisher","DOI":"10.1038\/88236"},{"key":"2025082805323966000_2018.feb13_1.bcr-2017-223390.2","doi-asserted-by":"publisher","DOI":"10.1086\/320612"},{"key":"2025082805323966000_2018.feb13_1.bcr-2017-223390.3","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1002\/ajmg.a.32875","article-title":"Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation","volume":"149A","author":"Baynam","year":"2009","journal-title":"Am J Med Genet A"},{"key":"2025082805323966000_2018.feb13_1.bcr-2017-223390.4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0073576","article-title":"A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia","volume":"8","author":"Hu","year":"2013","journal-title":"PLoS One"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-223390","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:32:49Z","timestamp":1756384369000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-223390"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,14]]},"references-count":4,"alternative-id":["10.1136\/bcr-2017-223390"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-223390","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,2,14]]}}}