{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T07:13:35Z","timestamp":1788333215519,"version":"build-2803163510"},"reference-count":11,"publisher":"Gobierno de Navarra","issue":"2","license":[{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-sa\/4.0\/deed.es"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["An Sist Sanit Navar"],"abstract":"<jats:p>El s\u00edndrome Charcot-Marie-Tooth tipo X1 (CMTX1) es una neuropat\u00eda motora y sensitiva hereditaria, causada por mutaciones en el gen GJB1 del cromosoma X. Aunque infrecuentes, la literatura describe cuadros tipo stroke mimic en pacientes CMTX1 en relaci\u00f3n a episodios de estr\u00e9s, con hallazgos caracter\u00edsticos en la resonancia magn\u00e9tica y resoluci\u00f3n espont\u00e1nea completa.\nPresentamos el caso de un adolescente var\u00f3n de 13 a\u00f1os con CMTX1, sin cl\u00ednica neurol\u00f3gica previa, que tras picadura de avispa present\u00f3 cuadro de hemiparesia derecha, disartria y desviaci\u00f3n bucal. Tras activaci\u00f3n del c\u00f3digo ictus, la resonancia magn\u00e9tica cerebral mostr\u00f3 lesiones hiperintensas bilaterales en centros semiovales, sin signos de trombosis. Ser\u00eda el primer caso en un paciente pedi\u00e1trico con CMTX1 con picadura de insecto como desencadenante del cuadro que mimetiz\u00f3 un ictus. Consideramos la importancia de, ante la duda, activar el c\u00f3digo ictus pedi\u00e1trico y realizar resonancia magn\u00e9tica para confirmar el diagn\u00f3stico y descartar otros procesos.<\/jats:p>","DOI":"10.23938\/assn.1157","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T10:31:29Z","timestamp":1787135489000},"page":"e1157","source":"Crossref","is-referenced-by-count":0,"title":["Stroke mimic tras picadura de avispa en ni\u00f1o con s\u00edndrome de Charcot-Marie-Tooth ligado al cromosoma X tipo 1","Stroke mimic after wasp sting in a child with Charcot-Marie-Tooth neuropathy X type 1"],"prefix":"10.23938","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5322-9544","authenticated-orcid":false,"given":"Alicia","family":"Hernando Larroy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-0365-786X","authenticated-orcid":false,"given":"Alicia","family":"Fr\u00edas Herrero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9336-780X","authenticated-orcid":false,"given":"Jos\u00e9 Luis","family":"Pe\u00f1a Segura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3042-8422","authenticated-orcid":false,"given":"Daniel","family":"Palanca Arias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10024","published-online":{"date-parts":[[2026,7,21]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"1. WANG Y, YIN F. A Review of X-linked Charcot-Marie-Tooth disease. J Child Neurol 2016; 31(6): 761-72. https:\/\/doi.org\/10.1177\/0883073815604227","DOI":"10.1177\/0883073815604227"},{"key":"ref1","doi-asserted-by":"publisher","unstructured":"2. TIAN D, ZHAO Y, ZHU R, LI Q, LIU X. Systematic review of CMTX1 patients with episodic neurological dysfunction. Ann Clin Transl Neurol 2021;8(1):213-223. https:\/\/doi.org\/10.1002\/acn3.51271","DOI":"10.1002\/acn3.51271"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"3. HARDY DI, LICHT DJ, VOSSOUGH A, KIRSCHEN MP. X-linked Charcot-Marie-Tooth disease presenting with stuttering stroke-like symptoms. Neuropediatrics 2019;50(5):304-307. https:\/\/doi.org\/10.1055\/s-0039-1692982","DOI":"10.1055\/s-0039-1692982"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"4. AKTAN Z, AKCAKAYA NH, TEKTURK P, DENIZ E, KOYUNCU B, YAPICI Z. A case with CMTX1 disease showing transient ischemic-attack-like episodes. Neurol Neurochir Pol 2018;52(2):285-288. https:\/\/doi.org\/10.1016\/j.pjnns.2017.10.016","DOI":"10.1016\/j.pjnns.2017.10.016"},{"key":"ref4","doi-asserted-by":"publisher","unstructured":"5. WU N, SAID S, SABAT S, WICKLUND M, STAHL MC. Recurrent episodes of stroke-like symptoms in a patient with Charcot-Marie-Tooth neuropathy X type 1. Case Rep Neurol 2015;7(3):247-252. https:\/\/doi.org\/10.1159\/000442410","DOI":"10.1159\/000442410"},{"key":"ref5","doi-asserted-by":"publisher","unstructured":"6. KULSHRESTHA R, BURTON-JONES S, ANTONIADI T, ROGERS M, JAUNMUKTANE Z, BRANDNER S et al. Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease. Neuromuscul Disord 2017;27(8):766-770. https:\/\/doi.org\/10.1016\/j.nmd.2017.05.001","DOI":"10.1016\/j.nmd.2017.05.001"},{"key":"ref6","doi-asserted-by":"publisher","unstructured":"7. CORNETT KMD, MENEZES MP, BRAY P, HALAKI M, SHY RR, YUM SW et al. Phenotypic variability of childhood Charcot-Marie-Tooth disease. JAMA Neurol 2016;73: 645-651. https:\/\/doi.org\/10.1001\/jamaneurol.2016.0171","DOI":"10.1001\/jamaneurol.2016.0171"},{"key":"ref7","doi-asserted-by":"publisher","unstructured":"8. AL-MATEEN M, CRAIG AK, CHANCE PF. The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: A transient disorder of children and young adults. J Child Neurol 2014;29(3):342-348. https:\/\/doi.org\/10.1177\/0883073812474343","DOI":"10.1177\/0883073812474343"},{"key":"ref8","doi-asserted-by":"publisher","unstructured":"9. TAYLOR RA, SIMON EM, MARKS HG, SCHERER SS. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 2003;61(11):1475-1478. https:\/\/doi.org\/10.1212\/01.WNL.0000095960.48964.25","DOI":"10.1212\/01.WNL.0000095960.48964.25"},{"key":"ref9","doi-asserted-by":"publisher","unstructured":"10. KIM G-H, KIM KM, SUH S-I, KI C-S, EUN B-L. Charcot-Marie-Tooth disease masquerading as acute demyelinating encephalomyelitis-like illness. Pediatrics 2014;134(1): e270-273. https:\/\/doi.org\/10.1542\/peds.2012-3243","DOI":"10.1542\/peds.2012-3243"},{"key":"ref10","doi-asserted-by":"publisher","unstructured":"11. HANEMANN CO, BERGMANN C, SENDEREK J, ZERRES K, SPERFELD AD. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol 2003; 60(4):605-609. https:\/\/doi.org\/10.1001\/archneur.60.4.605","DOI":"10.1001\/archneur.60.4.605"}],"container-title":["Anales del Sistema Sanitario de Navarra"],"original-title":[],"link":[{"URL":"https:\/\/recyt.fecyt.es\/index.php\/ASSN\/article\/download\/119704\/88733","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/recyt.fecyt.es\/index.php\/ASSN\/article\/download\/119704\/88733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T06:20:50Z","timestamp":1788330050000},"score":1,"resource":{"primary":{"URL":"https:\/\/recyt.fecyt.es\/index.php\/ASSN\/article\/view\/119704"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,21]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,6,24]]}},"URL":"https:\/\/doi.org\/10.23938\/assn.1157","relation":{},"ISSN":["2340-3527","1137-6627"],"issn-type":[{"value":"2340-3527","type":"electronic"},{"value":"1137-6627","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7,21]]}}}