{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:40:23Z","timestamp":1756363223005,"version":"3.44.0"},"reference-count":6,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,3,22]]},"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:p>Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagnoses must be maintained when the patient\u2019s presentation is out of keeping with expected manifestations and course. We present a case of a neonate with ASL deficiency and concomitant hypotonia, severe respiratory distress, pulmonary hypertension, systemic hypotension and congenital hypothyroidism. The patient was investigated and subsequently diagnosed with brain-lung-thyroid syndrome, caused by a mutation in the NKX2-1 gene.<\/jats:p>","DOI":"10.1136\/bcr-2020-241032","type":"journal-article","created":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T12:26:40Z","timestamp":1617193600000},"page":"e241032","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5389-9393","authenticated-orcid":false,"given":"Krystyna","family":"Ediger","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Hicks","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Komudi","family":"Siriwardena","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chloe","family":"Joynt","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,3,31]]},"reference":[{"key":"2025082723101684000_14.3.e241032.1","unstructured":"Nagamani SCS , Erez A , Lee B . Argininosuccinate lyase deficiency. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae. Seattle, WA: University of Washington, Seattle, 2011."},{"key":"2025082723101684000_14.3.e241032.2","first-page":"45","article-title":"Argininosuccinate lyase deficiency\u2014Argininosuccinic aciduria and beyond, American Journal of medical genetics part C: seminars","volume":"157","author":"Erez","year":"2011","journal-title":"Medical Genetics"},{"key":"2025082723101684000_14.3.e241032.3","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201304-0686PP"},{"key":"2025082723101684000_14.3.e241032.4","unstructured":"Patel NJ JJ . NKX2-1-related disorders. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae. Seattle, WA: University of Washington, Seattle, 2014."},{"key":"2025082723101684000_14.3.e241032.5","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.rmed.2017.05.014","article-title":"Heterogeneity of lung disease associated with NK2 homeobox 1 mutations","volume":"129","author":"Nattes","year":"2017","journal-title":"Respir Med"},{"key":"2025082723101684000_14.3.e241032.6","doi-asserted-by":"publisher","DOI":"10.1378\/chest.12-2502"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-241032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:10:25Z","timestamp":1756361425000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-241032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,3,31]]},"published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1136\/bcr-2020-241032"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-241032","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,3]]}}}