{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:37:39Z","timestamp":1787017059167,"version":"build-2736575974"},"reference-count":12,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,1,27]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial haemorrhages, cataracts, nephropathies and more. There have been up to 137 identified patients based on a review of the literature. In this case, we describe a male infant that presents with hemiparesis, developmental delay and gait abnormalities at his well-child check. Referral to neurology and a subsequent MRI demonstrated porencephaly and ocular lens abnormalities. Genetic sequencing uncovered a mutation to the COL4A1 gene, suggesting Gould syndrome. There are no family members with similar phenotypes. Mutations to the COL4A1 and COL4A2 genes result in disruption of collagen found in most basement membranes, resulting in a variety of phenotypes that can make diagnosis difficult. Genetic identification of these patients is critical as these patients require a multidisciplinary approach to care and specific counselling on risk reduction techniques.<\/jats:p>","DOI":"10.1136\/bcr-2023-259103","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T12:35:37Z","timestamp":1707914137000},"page":"e259103","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome"],"prefix":"10.1136","volume":"17","author":[{"given":"Austin","family":"Burns","sequence":"first","affiliation":[{"name":"Rocky Vista University College of Osteopathic Medicine, Engelwood, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie","family":"Hug","sequence":"additional","affiliation":[{"name":"Rocky Vista University College of Osteopathic Medicine, Engelwood, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,2,14]]},"reference":[{"key":"2025082702182297000_17.2.e259103.1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.210"},{"key":"2025082702182297000_17.2.e259103.2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds346"},{"key":"2025082702182297000_17.2.e259103.3","doi-asserted-by":"crossref","first-page":"108365","DOI":"10.1016\/j.yebeh.2021.108365","article-title":"Epilepsy and related challenges in children with Col4A1 and Col4A2 mutations: a Gould syndrome patient Registry","volume":"125","author":"Boyce","year":"2021","journal-title":"Epilepsy Behav"},{"key":"2025082702182297000_17.2.e259103.4","first-page":"135","article-title":"Congenital porencephaly: MR features and relationship to hippocampal sclerosis","volume":"19","author":"Ho","year":"1998","journal-title":"AJNR Am J Neuroradiol"},{"key":"2025082702182297000_17.2.e259103.5","doi-asserted-by":"crossref","first-page":"100322","DOI":"10.1016\/j.gimo.2023.100322","article-title":"P294: its time to listen to the families: a disease concept model for Gould syndrome","volume":"1","author":"Duemler","year":"2023","journal-title":"Genetics in Medicine Open"},{"key":"2025082702182297000_17.2.e259103.6","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.110.581918"},{"key":"2025082702182297000_17.2.e259103.7","doi-asserted-by":"publisher","DOI":"10.1002\/uog.11070"},{"key":"2025082702182297000_17.2.e259103.8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa053727"},{"key":"2025082702182297000_17.2.e259103.9","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2013.135"},{"key":"2025082702182297000_17.2.e259103.10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.04198.x"},{"key":"2025082702182297000_17.2.e259103.11","unstructured":"Plaisier E , Ronco P , et al . Col4A1-related disorders 2009 Jun 25. In: Adam MP , Feldman J , Mirzaa GM , eds. GeneReviews\u00ae. Seattle: Seattle (WA): University of Washington, 1993."},{"key":"2025082702182297000_17.2.e259103.12","first-page":"e2078","article-title":"Neurologic phenotypes associated with Col4A1\/2 mutations: expanding the spectrum of disease","volume":"27","author":"Zagaglia","year":"2018","journal-title":"Neurology"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-259103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:18:37Z","timestamp":1756286317000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-259103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,2,14]]},"published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1136\/bcr-2023-259103"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-259103","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2]]}}}