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Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia

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 ANKH or GJA1 genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expa...

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Dettagli Bibliografici
Pubblicato in:BMJ Case Rep
Autori principali: DiFrancesco, Jacopo C, Isimbaldi, Giuseppe, Bedeschi, Maria Francesca, Castellotti, Barbara
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5847834/
https://ncbi.nlm.nih.gov/pubmed/29444796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-223390
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