{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:23:55Z","timestamp":1790277835898,"version":"4.1.0"},"reference-count":10,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,5,25]]},"abstract":"Summary<\/jats:title>\n The autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy (APECED) syndrome is a genetic disorder caused by a mutation in the autoimmune regulator (AIRE) gene. Immune deficiency, hypoparathyroidism and Addison\u2019s disease due to autoimmune dysfunction are the major clinical signs of APECED. We report on a 21-year-old female APECED patient with two inactivating mutations in the AIRE gene. She presented with sudden onset of periodic nausea. Adrenal insufficiency was diagnosed by means of the ACTH stimulation test. Despite initiation of hormone replacement therapy with hydrocortisone and fludrocortisone, nausea persisted and the patient developed cognitive deficits and a loss of interest which led to the diagnosis of depression. She was admitted to the psychiatric department for further diagnostic assessment. An EEG showed a focal epileptic pattern. Glutamic acid decarboxylase (GAD) antibodies, which had been negative eight years earlier, were now elevated in serum and in the cerebrospinal fluid. Oligoclonal bands were positive indicating an inflammatory process with intrathecal antibody production in the central nervous system (CNS). The periodic nausea was identified as dialeptic seizures, which clinically presented as gastrointestinal aura followed by episodes of reduced consciousness that occurred about 3\u20134 times per day. GAD antibody-associated limbic encephalitis (LE) was diagnosed. Besides antiepileptic therapy, an immunosuppressive treatment with corticosteroids was initiated followed by azathioprine. The presence of nausea and vomiting in endocrine patients with autoimmune disorders is indicative of adrenal insufficiency. However, our case report shows that episodic nausea may be a symptom of epileptic seizures due to GAD antibodies-associated LE in patients with APECED.<\/jats:p>\n \n Learning points:<\/jats:title>\n \n \n Episodic nausea cannot only be a sign of Addison\u2019s disease, but can also be caused by epileptic seizures with gastrointestinal aura due to limbic encephalitis.<\/jats:p>\n <\/jats:list-item>\n \n GAD antibodies are not only found in diabetes mellitus type 1, but they are also associated with autoimmune limbic encephalitis and can appear over time.<\/jats:p>\n <\/jats:list-item>\n \n Limbic encephalitis can be another manifestation of autoimmune disease in patients with APECED\/APS-1 that presents over the time course of the disease.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n 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Research"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Nischwitz","sequence":"additional","affiliation":[{"name":"1Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"K\u00fcmpfel","sequence":"additional","affiliation":[{"name":"3Institute of Clinical Neuroimmunology, Klinikum der Universit\u00e4t M\u00fcnchen, Ludwig-Maximilians Universit\u00e4t LMU, Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcnter K","family":"Stalla","sequence":"additional","affiliation":[{"name":"1Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias K","family":"Auer","sequence":"additional","affiliation":[{"name":"1Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich 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