{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T19:51:47Z","timestamp":1785873107400,"version":"3.56.0"},"reference-count":14,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,2,12]]},"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>Ataxia telangiectasia (A-T) (OMIM 208900) is an autosomal recessive multisystem disorder characterised by progressive cerebellar ataxia, telangiectasias, immunodeficiency and a predisposition to malignancy. \u2018Variant\u2019 A-T has later onset of neurological symptoms and slower progression compared with the \u2018classic\u2019 form. A woman presented with short stature in late childhood. Karyotype revealed rearrangements involving chromosomes 7 and 14. A chromosomal breakage disorder gene panel demonstrated compound heterozygote mutations in her <jats:italic>ATM<\/jats:italic> gene including one mutation c.7271T&gt;G with residual <jats:italic>ATM<\/jats:italic> function, confirming the diagnosis of variant A-T. Since diagnosis, she has developed progressive cerebellar ataxia and telangiectasias. Long-standing restrictive and aversive feeding behaviours presented challenges for her management and necessitated gastrostomy.<\/jats:p>","DOI":"10.1136\/bcr-2023-257736","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T12:01:04Z","timestamp":1709812864000},"page":"e257736","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Variant ataxia telangiectasia identified during evaluation for short stature"],"prefix":"10.1136","volume":"17","author":[{"given":"Anitha","family":"Sokay","sequence":"first","affiliation":[{"name":"Paediatrics, Midland Regional Hospital Mullingar, Mullingar, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy Ronan","family":"Leahy","sequence":"additional","affiliation":[{"name":"Immunology, Our Lady's Hospital Crumlin, Crumlin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"O'Regan","sequence":"additional","affiliation":[{"name":"Neurology, Our Lady's Hospital Crumlin, Crumlin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"O' Grady","sequence":"additional","affiliation":[{"name":"Paediatrics, Midland Regional Hospital Mullingar, Mullingar, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,3,7]]},"reference":[{"key":"2025082700043255000_17.3.e257736.1","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1542\/peds.21.4.526","article-title":"Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection","volume":"21","author":"BODER","year":"1958","journal-title":"Pediatrics"},{"key":"2025082700043255000_17.3.e257736.2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0543-7"},{"key":"2025082700043255000_17.3.e257736.3","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-133-10-200011210-00009"},{"key":"2025082700043255000_17.3.e257736.4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0264177","article-title":"The natural history of ataxia-telangiectasia (A-T): a systematic review","volume":"17","author":"Petley","year":"2022","journal-title":"PLoS One"},{"key":"2025082700043255000_17.3.e257736.5","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-09-456897"},{"key":"2025082700043255000_17.3.e257736.6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21034"},{"key":"2025082700043255000_17.3.e257736.7","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000529)92:3<170::AID-AJMG3>3.0.CO;2-#"},{"key":"2025082700043255000_17.3.e257736.8","doi-asserted-by":"publisher","DOI":"10.1086\/301706"},{"key":"2025082700043255000_17.3.e257736.9","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1186\/s13023-021-01716-5","article-title":"Growth in ataxia telangiectasia","volume":"16","author":"Natale","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"2025082700043255000_17.3.e257736.10","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2015-310373"},{"key":"2025082700043255000_17.3.e257736.11","doi-asserted-by":"publisher","DOI":"10.3109\/08977194.2014.939805"},{"key":"2025082700043255000_17.3.e257736.12","first-page":"89","article-title":"Mortality and cancer incidence in 263 patients with ataxia telangiectasia","volume":"77","author":"Morrell","year":"1986","journal-title":"J Natl Cancer Inst"},{"key":"2025082700043255000_17.3.e257736.13","doi-asserted-by":"publisher","DOI":"10.1158\/1940-6207.CAPR-20-0448"},{"key":"2025082700043255000_17.3.e257736.14","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/cge.12710","article-title":"Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline","volume":"90","author":"van Os","year":"2016","journal-title":"Clin Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-257736","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:04:44Z","timestamp":1756278284000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-257736"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,3,7]]},"published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1136\/bcr-2023-257736"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-257736","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3]]}}}