{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T11:10:02Z","timestamp":1756293002133,"version":"3.44.0"},"reference-count":28,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,7,13]]},"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:p>Gould Syndrome is a rare genetic disorder associated with <jats:italic>COL4A1<\/jats:italic>\/<jats:italic>COL4A2<\/jats:italic> variants compromising the blood\u2013brain barrier and leading to neurological and muscular complications, including epilepsy. We report the first known case of Gould syndrome presenting with neonatal-onset panhypopituitarism and later developing super-refractory status epilepticus (SRSE). The patient, a girl diagnosed at 22 months old, required pentobarbital burst suppression, multiple anti-seizure medications (ASMs) and ketogenic diet therapy. SRSE resolved after 1\u2009week of pentobarbital coma. She was discharged on Clobazam, Perampanel and Lacosamide, with persistent hypotonia and rare myoclonic seizures. Genetic testing revealed a novel, paternally inherited <jats:italic>COL4A2<\/jats:italic> (c.826\u20131G&gt;T) splice-site variant. While RSE is commonly linked to inflammatory encephalitis, this case emphasises the importance of early genome sequencing, particularly whole-exome sequencing (WES), in cases of acute RSE with no clear underlying aetiology. Early genetic testing is crucial for individualised treatment and genetic counselling, potentially improving patient outcomes.<\/jats:p>","DOI":"10.1136\/bcr-2025-266705","type":"journal-article","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T01:10:15Z","timestamp":1753665015000},"page":"e266705","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Rapid genetic testing in the PICU: uncovering COL4A2-related GOULD syndrome in super-refractory status epilepticus"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-5707-9009","authenticated-orcid":false,"given":"Kyle Chandler","family":"Sporn","sequence":"first","affiliation":[{"name":"Department of Medicine, SUNY Upstate Medical University, Syracuse, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ria","family":"Garg","sequence":"additional","affiliation":[{"name":"Center of Development, Behavior, and Genetics, SUNY Upstate Medical University Department of Pediatrics, Syracuse, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ai","family":"Sakonju","sequence":"additional","affiliation":[{"name":"Department of Neurology, SUNY Upstate Medical University Norton College of Medicine, Syracuse, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,7,27]]},"reference":[{"key":"2025082703515769000_18.7.e266705.1","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.14336\/AD.2021.0302","article-title":"Super-Refractory Status Epilepticus: Prognosis and Recent Advances in Management","volume":"12","author":"Kirmani","year":"2021","journal-title":"Aging Dis"},{"key":"2025082703515769000_18.7.e266705.2","article-title":"Management of super-refractory status epilepticus with isoflurane and hypothermia","volume":"5","author":"Zhumadilov","year":"2014","journal-title":"Front Neurol"},{"key":"2025082703515769000_18.7.e266705.3","doi-asserted-by":"crossref","DOI":"10.1212\/CPJ.0000000000200151","article-title":"Autoimmune Encephalitis Criteria in Clinical Practice","volume":"13","author":"Orozco","year":"2023","journal-title":"Neurol Clin Pract"},{"key":"2025082703515769000_18.7.e266705.4","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.048231","article-title":"Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome","volume":"14","author":"Mao","year":"2021","journal-title":"Dis Model Mech"},{"key":"2025082703515769000_18.7.e266705.5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds346"},{"key":"2025082703515769000_18.7.e266705.6","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":"2025082703515769000_18.7.e266705.7","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.c.32099","article-title":"Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol","volume":"196","author":"Gasparini","year":"2024","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025082703515769000_18.7.e266705.8","doi-asserted-by":"publisher","DOI":"10.1126\/science.1109418"},{"key":"2025082703515769000_18.7.e266705.9","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2023-259103","article-title":"Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome","volume":"17","author":"Burns","year":"2024","journal-title":"BMJ Case Rep"},{"key":"2025082703515769000_18.7.e266705.10","doi-asserted-by":"crossref","DOI":"10.4103\/ijo.IJO_1622_18","article-title":"Double ring sign in optic nerve head hypoplasia","volume":"67","author":"Deb","year":"2019","journal-title":"Indian J Ophthalmol"},{"key":"2025082703515769000_18.7.e266705.11","doi-asserted-by":"crossref","unstructured":"D\u2019Souza NM , Almarzouqi SJ , Morgan ML , et al . 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