{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T16:58:26Z","timestamp":1778864306930,"version":"3.51.4"},"reference-count":14,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Stroke in infancy is a rare phenomenon but can lead to significant long-term disability. We present the story of a 6-month-old Old Order Amish infant with underlying Williams syndrome, a rare neurodevelopmental disorder caused by a microdeletion, encompassing the elastin gene that produces abnormalities in elastic fibers of the lungs and vessels. This infant presented with lethargy, irritability, and a new-onset generalized tonic-clonic seizure. Brain magnetic resonance imaging (MRI) was consistent with ischemic stroke in the supratentorial regions. MR angiogram demonstrated bilateral narrowing of the internal carotid arteries with \u201civy sign,\u201d suggestive of Moyamoya. Moyamoya disease\/syndrome is a cerebrovascular condition that is associated with progressive stenosis of the intracranial vessels and can cause ischemic stroke in young children. Targeted mutation analysis revealed a homozygous c.1411\u20132A\u2009&gt;\u2009G splice site variant in the SAMHD1 gene, consistent with a diagnosis of Aicardi\u2013Gouti\u00e8res syndrome type 5 (AGS5), an autosomal recessive condition with multisystem involvement. In our unique case of infantile stroke with Moyamoya syndrome and dual diagnosis of Williams syndrome and AGS5, both diagnoses likely contributed to the cerebrovascular pathology. This case report highlights the importance of suspecting and testing for multiple genetic abnormalities in children presenting with Moyamoya-related stroke.<\/jats:p>","DOI":"10.1055\/s-0041-1739131","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T23:52:12Z","timestamp":1638402732000},"page":"204-207","source":"Crossref","is-referenced-by-count":8,"title":["Moyamoya Syndrome in an Infant with Aicardi\u2013Gouti\u00e8res and Williams Syndromes: A Case Report"],"prefix":"10.1055","volume":"53","author":[{"given":"Jagraj S.","family":"Brar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Critical Care Medicine, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"},{"name":"Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"},{"name":"Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0124-255X","authenticated-orcid":false,"given":"Rahul","family":"Verma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"},{"name":"Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Al-Omari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, King Fahad Hospital of the University, Al-Khobar, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria M.","family":"Siu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"},{"name":"Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada"},{"name":"Division of Medical Genetics, Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea V.","family":"Andrade","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"},{"name":"Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada"},{"name":"Division of Pediatric Neurology, Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael T.","family":"Jurkiewicz","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada"},{"name":"Department of Medical Imaging, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2599-9119","authenticated-orcid":false,"given":"Saptharishi","family":"Lalgudi Ganesan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Critical Care Medicine, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"},{"name":"Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada"},{"name":"Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,12,1]]},"reference":[{"issue":"12","key":"ref1","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1056\/NEJMra0804622","article-title":"Moyamoya disease and moyamoya syndrome","volume":"360","author":"R M 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