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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Vydáno v:BMJ Case Rep
Hlavní autoři: DiFrancesco, Jacopo C, Isimbaldi, Giuseppe, Bedeschi, Maria Francesca, Castellotti, Barbara
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2018
Témata:
Unusual Association of Diseases/Symptoms
On-line přístup: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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