{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,7]],"date-time":"2026-06-07T03:37:28Z","timestamp":1780803448340,"version":"3.54.1"},"reference-count":41,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,9,9]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:p>Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant multisystem disorder that is caused by mutations of transforming growth factor-\u03b2 receptors. Mutations in <jats:italic>SMAD3<\/jats:italic> and <jats:italic>TGFB3<\/jats:italic> have been recently reported.<\/jats:p>\n               <jats:p>LDS is characterised by the triad of arterial tortuosity, hypertelorism and a bifid uvula or cleft palate among other cardiovascular, craniofacial and orthopaedic manifestations. Patients with LDS show clinical and genetic variability and there is a significant risk of reduced life expectancy due to widespread arterial involvement, aortic root dilation, aneurysms and an aggressive vascular course. Thus early genetic testing is warranted if clinical signs and history are suggestive of this potentially catastrophic disorder.<\/jats:p>\n               <jats:p>LDS predisposes patients to aortic aneurysms and early death due to vascular malformations, but neurological emergencies, such as seizures and febrile status epilepticus, have not been reported.<\/jats:p>\n               <jats:p>Febrile status epilepticus is the most common neurological emergency in childhood. Neurological manifestations of COVID-19 in the paediatric population are not as well described in medical literature.<\/jats:p>\n               <jats:p>To the best of our knowledge, this is the first reported case of febrile status epilepticus with COVID-19 infection in an infant with LDS. Our patient had focal epileptiform activity emanating over the left posterior hemisphere, which evolved into an electrographic seizure on video EEG. Such patients have a heightened risk of epilepsy in the future, and this occurrence is consistent with a diagnosis of focal epilepsy. Neurological complications such as epilepsy and status epilepticus in a patient with LDS have never been reported before.<\/jats:p>\n               <jats:p>A brief review of literature is also given here.<\/jats:p>","DOI":"10.1136\/bcr-2022-250587","type":"journal-article","created":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T11:10:11Z","timestamp":1667473811000},"page":"e250587","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0100-4463","authenticated-orcid":false,"given":"Asra","family":"Akbar","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, UICOMP, Peoria, Illinois, 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