{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:56:46Z","timestamp":1773269806974,"version":"3.50.1"},"reference-count":15,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:00:00Z","timestamp":1722816000000},"content-version":"vor","delay-in-days":12,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). This case report describes an infant with achondroplasia who presented with a syndrome of inappropriate antidiuretic hormone secretion (SIADH), secondary to significant FMS and myelocompression. A 2-month-old boy with prenatally diagnosed achondroplasia was referred due to disordered breathing and altered consciousness. On admission, apathy, hypotonus, and hypothermia with typical features of achondroplasia were noticed. Laboratory investigations revealed severe hyponatremia and hypochloridaemia with normal glucose and urea levels. The diagnosis of SIADH was made based on low serum osmolality in the presence of high urine osmolality, along with an elevated copeptin level. An emergency computerized tomography showed a high-grade stenosis at the cranio-cervical junction; subsequent magnetic resonance imaging demonstrated myelocompression. The patient underwent decompression surgery the next day; serum osmolality increased after the operation. Spontaneous breathing after extubation was sufficient whereas tetraplegia persisted despite intensive physiotherapy. Clinicians should be aware of SIADH as a presenting sign of FMS in children with achondroplasia. Further discussion is warranted regarding improving parental education and timing of screening recommendations.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae144","type":"journal-article","created":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T07:11:27Z","timestamp":1722841887000},"source":"Crossref","is-referenced-by-count":1,"title":["SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8129-9056","authenticated-orcid":false,"given":"Ayse Nurcan","family":"Cebeci","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander University , 91054 Erlangen-Nuremberg , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Hebert","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander University , 91054 Erlangen-Nuremberg , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander University , 91054 Erlangen-Nuremberg , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Rompel","sequence":"additional","affiliation":[{"name":"Department of Radiology, University Hospital Erlangen, Friedrich-Alexander University , 91054 Erlangen-Nuremberg , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joachim","family":"Woelfle","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander University , 91054 Erlangen-Nuremberg , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2024,8,5]]},"reference":[{"issue":"6","key":"2024081401414465400_luae144-B1","doi-asserted-by":"crossref","first-page":"e20201010","DOI":"10.1542\/peds.2020-1010","article-title":"Health supervision for people with achondroplasia","volume":"145","author":"Hoover-Fong","year":"2020","journal-title":"Pediatrics"},{"issue":"1","key":"2024081401414465400_luae144-B2","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/ajmg.a.37394","article-title":"Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy","volume":"170A","author":"White","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"1","key":"2024081401414465400_luae144-B3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-018-0972-6","article-title":"Achondroplasia: a comprehensive clinical review","volume":"14","author":"Pauli","year":"2019","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"2024081401414465400_luae144-B4","doi-asserted-by":"crossref","first-page":"374","DOI":"10.3171\/2018.9.PEDS18410","article-title":"Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis","volume":"23","author":"Nadel","year":"2018","journal-title":"J Neurosurg Pediatr"},{"issue":"4","key":"2024081401414465400_luae144-B5","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1016\/S0022-3476(87)80542-5","article-title":"Cervicomedullary compression in young patients with achondroplasia. Value of comprehensive neurologic and respiratory evaluation","volume":"110","author":"Reid","year":"1987","journal-title":"J Pediatr"},{"key":"2024081401414465400_luae144-B6","volume-title":"Achondroplasie und Hypochondroplasie","author":"Mohnike","year":"2013","edition":"2nd Ed"},{"issue":"12","key":"2024081401414465400_luae144-B7","doi-asserted-by":"crossref","first-page":"2323","DOI":"10.1007\/s00247-023-05728-0","article-title":"Members of the ESPR neuroradiology taskforce; members of the ESNR pediatric subcommittee. Recommendations for neuroradiological examinations in children living with achondroplasia: a European society of pediatric radiology and European society of neuroradiology opinion paper","volume":"53","author":"Wright","year":"2023","journal-title":"Pediatr Radiol"},{"issue":"8","key":"2024081401414465400_luae144-B8","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1007\/s00247-022-05348-0","article-title":"The (extended) achondroplasia foramen magnum score has good observer reliability","volume":"52","author":"Jenko","year":"2022","journal-title":"Pediatr Radiol"},{"issue":"1","key":"2024081401414465400_luae144-B9","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1297\/cpe.29.25","article-title":"Clinical practice guidelines for achondroplasia","volume":"29","author":"Kubota","year":"2020","journal-title":"Clin Pediatr Endocrinol"},{"issue":"3","key":"2024081401414465400_luae144-B10","first-page":"454","article-title":"Mortality in achondroplasia","volume":"41","author":"Hecht","year":"1987","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2024081401414465400_luae144-B11","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.pcl.2018.09.005","article-title":"Syndrome of inappropriate antidiuresis","volume":"66","author":"Moritz","year":"2019","journal-title":"Pediatr Clin North Am"},{"issue":"4","key":"2024081401414465400_luae144-B12","doi-asserted-by":"crossref","first-page":"e30","DOI":"10.1111\/ped.12387","article-title":"Rapid deterioration of primary fourth ventricular outlet obstruction resulting in syndrome of inappropriate antidiuretic hormone secretion","volume":"56","author":"Hashimoto","year":"2014","journal-title":"Pediatr Int"},{"issue":"3","key":"2024081401414465400_luae144-B13","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/s41574-021-00595-x","article-title":"International consensus statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia","volume":"18","author":"Savarirayan","year":"2022","journal-title":"Nat Rev Endocrinol"},{"issue":"1","key":"2024081401414465400_luae144-B14","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1186\/s13023-023-02795-2","article-title":"European achondroplasia forum guiding principles for the detection and management of foramen magnum stenosis","volume":"18","author":"Irving","year":"2023","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"2024081401414465400_luae144-B15","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1136\/archdischild-2020-319625","article-title":"Achondroplasia foramen Magnum score: screening infants for stenosis","volume":"106","author":"Cheung","year":"2021","journal-title":"Arch Dis Child"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/8\/luae144\/58812113\/luae144.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/8\/luae144\/58812113\/luae144.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T01:41:57Z","timestamp":1723599717000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luae144\/7727218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,24]]},"references-count":15,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,7,24]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luae144","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,8]]},"published":{"date-parts":[[2024,7,24]]},"article-number":"luae144"}}