{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:04:25Z","timestamp":1756339465811,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,1,22]]},"abstract":"<jats:p>A 58-year-old right-handed woman presented to our institution with a 1-month history of polydipsia and polyuria. She had a remote history of neurofibroma excision by dermatology and, on examination, was noted to meet the clinical diagnostic criteria for neurofibromatosis type 1. Laboratory investigations revealed hypernatraemia and elevated serum osmolality, accompanied by reduced urinary osmolality. A subsequent water deprivation test confirmed central diabetes insipidus, which responded to treatment with desmopressin. MRI of the brain showed pituitary enlargement, which raised the possibility of an underlying pituitary adenoma or, alternatively, lymphocytic hypophysitis. Both conditions have rarely been described in neurofibromatosis.<\/jats:p>","DOI":"10.1136\/bcr-2017-222741","type":"journal-article","created":{"date-parts":[[2018,2,11]],"date-time":"2018-02-11T23:45:15Z","timestamp":1518392715000},"page":"bcr-2017-222741","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["\u2018If there were water we should stop and drink\u2019: neurofibromatosis presenting with diabetes insipidus"],"prefix":"10.1136","volume":"2018","author":[{"given":"Rachel","family":"Barry","sequence":"first","affiliation":[{"name":"Department of Neurology, Mercy University Hospital, Cork, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoinette","family":"O' Connor","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mercy University Hospital, Cork, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohn Hazriq","family":"Awang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Mercy University Hospital, Cork, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orna","family":"O' Toole","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mercy University Hospital, Cork, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,2,11]]},"reference":[{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70063-8"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03550010065042"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.3","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-16-0452"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.4","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1714"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.5","first-page":"CS3","article-title":"Neurofibromatosis type 1 and lymphocytic hypophysitis: Single trigger and double shots?","volume":"3","author":"Idiculla","year":"2015","journal-title":"Int J Rheumatology and Clin Immunology"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.6","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S0003-4266(04)95659-4","article-title":"[Graves' disease and hyperprolactinemia in a patient with Noonan syndrome neurofibromatosis type 1]","volume":"65","author":"Bolko","year":"2004","journal-title":"Ann Endocrinol"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.7","doi-asserted-by":"crossref","first-page":"80","DOI":"10.2340\/00015555-0005","article-title":"Neurofibromatosis 1\/Noonan syndrome associated with Hashimoto\u2019s thyroiditis and vitiligo","volume":"86","author":"Yalcin","year":"2006","journal-title":"Acta Derm Venereol"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.8","doi-asserted-by":"crossref","first-page":"e84","DOI":"10.1097\/MPH.0b013e3182580d88","article-title":"Central diabetes insipidus: an unusual complication in a child with juvenile myelomonocytic leukemia and monosomy 7","volume":"35","author":"Surapolchai","year":"2013","journal-title":"J Pediatr Hematol Oncol"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.9","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/mpo.10158","article-title":"Diabetes insipidus in a child with a monosomy-7 associated myelodysplastic syndrome and neurofibromatosis I","volume":"40","author":"Kollen","year":"2003","journal-title":"Med Pediatr Oncol"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.10","first-page":"611","article-title":"[Recklinghausen\u2019s neurofibromatosis, diabetes insipidus and xanthomatosis]","volume":"42","author":"Geoffroy","year":"1963","journal-title":"Maroc Med"},{"key":"2025082707421432000_2018.feb09_1.bcr-2017-222741.11","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcw052"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-222741","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:42:24Z","timestamp":1756305744000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-222741"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,11]]},"references-count":11,"alternative-id":["10.1136\/bcr-2017-222741"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-222741","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,2,11]]}}}