{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T01:58:25Z","timestamp":1783475905434,"version":"3.55.0"},"reference-count":98,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T00:00:00Z","timestamp":1715558400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical picture is uncertain, it is important to remember that certain genetic conditions can cause bleeding inside the brain, which may resemble NAHI. Pediatric strokes occurring around the time of birth can also be an initial sign of undiagnosed genetic disorders. Hence, it is crucial to conduct a thorough evaluation, including genetic testing, when there is a suspicion of NAHI but the symptoms are unclear. In these cases, a characteristic set of symptoms is often observed. This study aims to summarize some of the genetic causes of hemorrhagic stroke in the pediatric population, thus mimicking non-accidental head injury, considering elements that can be useful in characterizing pathologies. A systematic review of genetic disorders that may cause ICH in children was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We selected 10 articles regarding the main genetic diseases in stroke; we additionally selected 11 papers concerning patients with pediatric stroke and genetic diseases, or studies outlining the characteristics of stroke in these patients. The disorders we identified were Moyamoya disease (MMD), COL4A1, COL4A2 pathogenic variant, Ehlers\u2013Danlos syndrome (E-D), neurofibromatosis type 1 (Nf1), sickle cell disease (SCD), cerebral cavernous malformations (CCM), hereditary hemorrhagic telangiectasia (HHT) and Marfan syndrome. In conclusion, this paper provides a comprehensive overview of the genetic disorders that could be tested in children when there is a suspicion of NAHI but an unclear picture.<\/jats:p>","DOI":"10.3390\/genes15050618","type":"journal-article","created":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T08:59:37Z","timestamp":1715677177000},"page":"618","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Can Hemorrhagic Stroke Genetics Help Forensic Diagnosis in Pediatric Age (&lt;5 Years Old)?"],"prefix":"10.3390","volume":"15","author":[{"given":"Biancamaria","family":"Treves","sequence":"first","affiliation":[{"name":"Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Sonnini","sequence":"additional","affiliation":[{"name":"Dipartimento Scienze della Vita e Sanit\u00e0 Pubblica, Medicina Genomica, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3433-7122","authenticated-orcid":false,"given":"Raffaele","family":"La Russa","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine, Public Health, Life Sciences, and Environmental Sciences, University of L\u2019Aquila, 67100 L\u2019Aquila, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6934-9791","authenticated-orcid":false,"given":"Fabio","family":"Del Duca","sequence":"additional","affiliation":[{"name":"Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Ghamlouch","sequence":"additional","affiliation":[{"name":"Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"De Matteis","sequence":"additional","affiliation":[{"name":"Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8846-0700","authenticated-orcid":false,"given":"Claudia","family":"Trignano","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Sassari, Viale San Pietro 43c, 07100 Sassari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Antonio","family":"Marchal","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Research (CIBM), Biopathology and Regenerative Medicine Institute (IBIMER), University of Granada, 18016 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA, University of Granada, 18071 Granada, Spain"},{"name":"Excellence Research Unit \u201cModeling Nature\u201d (MNat), University of Granada, 18016 Granada, Spain"},{"name":"Department of Human Anatomy and Embryology, Faculty of Medicine, University of Granada, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5551-4389","authenticated-orcid":false,"given":"Esmeralda","family":"Carrillo","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Research (CIBM), Biopathology and Regenerative Medicine Institute (IBIMER), University of Granada, 18016 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA, University of Granada, 18071 Granada, Spain"},{"name":"Excellence Research Unit \u201cModeling Nature\u201d (MNat), University of Granada, 18016 Granada, Spain"},{"name":"Department of Human Anatomy and Embryology, Faculty of Medicine, University of Granada, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5248-6896","authenticated-orcid":false,"given":"Gabriele","family":"Napoletano","sequence":"additional","affiliation":[{"name":"Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aniello","family":"Maiese","sequence":"additional","affiliation":[{"name":"Department of Surgical Pathology, Medical, Molecular and Critical Area, Institute of Legal Medicine, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e51","DOI":"10.1161\/STR.0000000000000183","article-title":"Management of Stroke in Neonates and Children: A Scientific Statement from the American Heart Association\/American Stroke Association","volume":"50","author":"Ferriero","year":"2019","journal-title":"Stroke"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1177\/1740774512438980","article-title":"National Institute of Neurological Disorders and Stroke Common Data Element Project\u2014Approach and Methods","volume":"9","author":"Grinnon","year":"2012","journal-title":"Clin. 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