{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T06:00:29Z","timestamp":1787032829601,"version":"build-2736575974"},"reference-count":25,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"4","license":[{"start":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T00:00:00Z","timestamp":1730851200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T00:00:00Z","timestamp":1730851200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["Biomed."],"abstract":"<jats:p>La displasia septo-\u00f3ptica es una afecci\u00f3n neurol\u00f3gica cong\u00e9nita de etiolog\u00eda multifactorial caracterizada por agenesia del septum pellucidum, disgenesia del cuerpo calloso o ambas, hipoplasia del quiasma o nervios \u00f3pticos y disfunci\u00f3n hormonal con alteraciones hipofisiarias o hipotal\u00e1micas. Para hacer el diagn\u00f3stico se requieren dos de estos criterios y la resonancia magn\u00e9tica es el examen de elecci\u00f3n. La mayor\u00eda de los casos se presentan con anomal\u00edas del desarrollo cortical en la forma conocida como displasia septo-\u00f3ptica plus. Si bien las convulsiones y los trastornos del neurodesarrollo son las manifestaciones neurol\u00f3gicas dominantes, es una entidad muy heterog\u00e9nea con m\u00faltiples hallazgos cl\u00ednicos y radiol\u00f3gicos que se deben considerar.Se presenta el caso de un hombre de 35 a\u00f1os con antecedentes de traumatismo craneoencef\u00e1lico en la infancia y remisi\u00f3n por epilepsia focal resistente al tratamiento asociada con d\u00e9ficit cognitivo.En la evaluaci\u00f3n inicial, la tomograf\u00eda computarizada de cr\u00e1neo simple se apreci\u00f3 agenesia del septum pellucidum y disgenesia del cuerpo calloso. Se practic\u00f3 una resonancia magn\u00e9tica cerebral que confirm\u00f3 la agenesia del septum pellucidum y, tambi\u00e9n, revel\u00f3 irregularidad y engrosamiento an\u00f3malo de la corteza cerebral en los l\u00f3bulos frontales y la regi\u00f3n perisilviana; adem\u00e1s, se encontr\u00f3 sustancia gris heterot\u00f3pica en los l\u00f3bulos frontales y la regi\u00f3n frontoinsular izquierda, leve ventriculomegalia supratentorial, apariencia at\u00edpica del rostrum del cuerpo calloso e hipoplasia del quiasma y los nervios \u00f3pticos.Aunque la agenesia del septum pellucidum fue la clave en este caso, no es un hallazgo presente en todos los pacientes.<\/jats:p>","DOI":"10.7705\/biomedica.7370","type":"journal-article","created":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T10:50:06Z","timestamp":1731063006000},"page":"451-459","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":2,"title":["Displasia septo-\u00f3ptica plus: reporte de caso para revisar y reconocer esta entidad","Septo-optic dysplasia plus: A case report for reviewing and recognizing this condition"],"prefix":"10.7705","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1756-1053","authenticated-orcid":false,"given":"Alexander","family":"Reyes","sequence":"first","affiliation":[{"name":"Grupo para la Renovaci\u00f3n Educativa de Medicina Interna (GERMINA), Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia;\u00a0Servicio de Radiolog\u00eda, Hospital Internacional de Colombia, Bucaramanga, Colombia"},{"name":"Grupo para la Renovaci\u00f3n Educativa de Medicina Interna (GERMINA), Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia;\u00a0Servicio de Radiolog\u00eda, Hospital Internacional de Colombia, Bucaramanga, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3440-3217","authenticated-orcid":false,"given":"Julieth","family":"Galvis","sequence":"additional","affiliation":[{"name":"Grupo para la Renovaci\u00f3n Educativa de Medicina Interna (GERMINA), Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia"},{"name":"Grupo para la Renovaci\u00f3n Educativa de Medicina Interna (GERMINA), Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1751-0823","authenticated-orcid":false,"given":"Yilver","family":"Estupi\u00f1\u00e1n","sequence":"additional","affiliation":[{"name":"Servicio de Hospitalizaci\u00f3n, Hospital Internacional de Colombia, Bucaramanga, Colombia"},{"name":"Servicio de Hospitalizaci\u00f3n, Hospital Internacional de Colombia, Bucaramanga, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4444","published-online":{"date-parts":[[2024,11,6]]},"reference":[{"key":"140181","doi-asserted-by":"crossref","unstructured":"Ferran Kd, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, et al. 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