{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:48:40Z","timestamp":1781081320276,"version":"3.54.1"},"reference-count":0,"publisher":"American Academy of Audiology","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["j am acad audiol"],"published-print":{"date-parts":[[2004,2,1]]},"abstract":"<jats:p>X-linked adrenoleukodystrophy (X-ALD) is characterized by demyelination that is associated with a deficient beta-oxidation of very long chain fatty acids. We report the unusual case of a male adult with X-ALD who was diagnosed at the age of 26 by a brain MRI performed because his brother\n had been diagnosed with a rapidly deteriorating form of X-ALD. His sole symptom was hearing difficulties in the presence of a normal audiogram since childhood. He has remained stable for seven years. Central auditory testing in our patient revealed severe deficits in several auditory processes.\n These findings correlated with involvement of the auditory pathway at the level of the trapezoid body, and posterior corpus callosum in particular, on his brain MRI. This case highlights not only the need for thorough audiological investigation of the patient who complains of hearing difficulties\n in the presence of a normal audiogram, but also that audiological investigations could be of value in the phenotypic evaluation of cases with adrenoleukodystrophy. Una adrenoleucodistrofia ligada al cromosoma X (X-ALD) se caracteriza por una desmielinizaci\u00f3n que se asocia con una oxidaci\u00f3n\n beta deficiente en los \u00e1cidos grasos de cadena muy larga. Reportamos el caso inusitado de un adulto con X-ADL, quien fue diagnosticado a la edad de 26 a\u00f1os por un MRI del cerebro, realizado en virtud de que a su hermano se le hab\u00eda diagnosticado una forma de X-ALD de r\u00e1pido\n deterioro. Su \u00fanico s\u00edntoma eran dificultades auditivas en presencia de un audiograma normal desde la ni\u00f1ez. Su condici\u00f3n ha permanecido estable por siete a\u00f1os. Las pruebas auditivas centrales en nuestro paciente revelaron deficiencias severas en varios procesos\n auditivos. Estos hallazgos correlacionaron con el compromiso de la v\u00eda auditiva particularmente a nivel del cuerpo trapezoide y del cuerpo calloso posterior, en su MRI. Este caso destaca la necesidad no solamente de hacer una investigaci\u00f3n audiol\u00f3gica completa en el paciente\n que se queja de dificultades auditivas en presencia de un audiograma normal, sino tambi\u00e9n que las investigaciones audiol\u00f3gicas pueden ser de valor en la evaluaci\u00f3n fenot\u00edpica de casos con adrenoleucodistrofia.<\/jats:p>","DOI":"10.3766\/jaaa.15.2.5","type":"journal-article","created":{"date-parts":[[2008,4,22]],"date-time":"2008-04-22T23:54:28Z","timestamp":1208908468000},"page":"152-160","source":"Crossref","is-referenced-by-count":9,"title":["An Unusual Case of X-Linked Adrenoleukodystrophy with Auditory Processing Difficulties as the First and Sole Clinical Manifestation"],"prefix":"10.3766","volume":"15","author":[{"given":"Doris-Eva","family":"Bamiou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalyn","family":"Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank E.","family":"Musiek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Rudge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda M.","family":"Luxon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2087","container-title":["Journal of the American Academy of Audiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ingentaconnect.com\/content\/aaa\/jaaa\/2004\/00000015\/00000002\/art00005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,5]],"date-time":"2025-02-05T23:09:50Z","timestamp":1738796990000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ingentaconnect.com\/content\/10.3766\/jaaa.15.2.5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,1]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,2,1]]}},"alternative-id":["1050-0545(20040201)15:2L.152;1-"],"URL":"https:\/\/doi.org\/10.3766\/jaaa.15.2.5","relation":{},"ISSN":["1050-0545"],"issn-type":[{"value":"1050-0545","type":"print"}],"subject":[],"published":{"date-parts":[[2004,2,1]]}}}