{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:24:07Z","timestamp":1790627047780,"version":"4.1.0"},"reference-count":31,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>The coexistence of polyneuropathy which has the definite clinical and electromyographical findings consistent with Charcot-Marie-Tooth (CMT) syndrome and neurofibromatosis type 1 (NF1) has infrequently been reported. We describe a patient with both CMT and NF1, who had multiple neurofibromas involving the entire spinal neural axis. In addition, he had multiple neurofibromas distributed within the ileopsoas and gluteus muscles and subcutaneous tissues. These lesions were detected readily by MRI and the patient underwent successful surgical resection of the largest tumours compressing bilateral C2 nerve roots. To our knowledge, this is the first reported case of CMT syndrome coexisting with NF1 in which multiple neurofibromas involved the entire spinal nerve roots. We discuss the diagnostic and therapeutic challenges, emphasising the role of MRI and electrophysiology in such cases and provide a literature review.<\/jats:p>","DOI":"10.1136\/bcr-2013-010078","type":"journal-article","created":{"date-parts":[[2013,7,13]],"date-time":"2013-07-13T08:42:51Z","timestamp":1373704971000},"page":"bcr2013010078","source":"Crossref","is-referenced-by-count":2,"title":["Charcot-Marie-Tooth syndrome and neurofibromatosis type 1 with multiple neurofibromas of the entire spinal nerve roots"],"prefix":"10.1136","volume":"2013","author":[{"given":"David O","family":"Onu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew W","family":"Hunn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Peters-Willke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,7,13]]},"reference":[{"key":"2025042708361819000_2013.jul13_1.bcr2013010078.1","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1385\/NMM:8:1-2:255","article-title":"Therapeutic strategies for the inherited neuropathies","volume":"2013","author":"Shy","year":"2006","journal-title":"Neuromolecular Med"},{"key":"2025042708361819000_2013.jul13_1.bcr2013010078.2","first-page":"164","article-title":"Charcot-Marie-tooth disease and multiple malignant melanomas: a case report","volume":"2013","author":"Saini","year":"2010","journal-title":"J DrugsDermatol"},{"key":"2025042708361819000_2013.jul13_1.bcr2013010078.3","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/mus.21523","article-title":"Unusual Charcot-Marie-tooth phenotype due to a mutation within the intracellular domain of myelin protein zero","volume":"2013","author":"Schneider-Gold","year":"2010","journal-title":"Muscle and Nerve"},{"key":"2025042708361819000_2013.jul13_1.bcr2013010078.4","first-page":"99","article-title":"A rare case of massive NF1 with invasion of entire spinal axis by neurofibromas: case report","volume":"2013","author":"Sarica","year":"2008","journal-title":"Turk Neurosurg"},{"key":"2025042708361819000_2013.jul13_1.bcr2013010078.5","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1542\/peds.2007-3204","article-title":"Neurofibromatosis type 1 revisited","volume":"2013","author":"Williams","year":"2009","journal-title":"Pediatrics"},{"key":"2025042708361819000_2013.jul13_1.bcr2013010078.6","unstructured":"NIH Conference 13\u201315 July 1987. 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