title: Sudden death associated with syndromic craniosynostosis.
abstract: In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Internal examination demonstrated severe cerebral edema with tonsillar herniation, premature fusion of the cranial bone sutures, and prominent convolutional markings of the inner table of the skull. Death was due to severe cerebral edema complicating syndromic craniosynostosis. The craniofacial features in this case were in keeping with a diagnosis of Crouzon syndrome which was confirmed by molecular testing of the FGFR2 gene. Crouzon syndrome is a genetic disorder characterized by premature fusion of the cranial bone sutures resulting in distinctive malformations of the craniofacial region.
authors.affiliation: Medico-Legal and Pathological-Anatomical Department of Health Care Surveillance Authority, Letná 47, 040 01, Košice, Slovak Republic. e.ginelli@gmail.com.
authors.forename: Alžbeta
authors.initials: A
authors.lastname: Ginelliová
authors.affiliation: Medico-Legal and Pathological-Anatomical Department of Health Care Surveillance Authority, Letná 47, 040 01, Košice, Slovak Republic.
authors.forename: Daniel
authors.initials: D
authors.lastname: Farkaš
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Pavol Jozef Šafárik University, Trieda SNP 1, 040 11, Košice, Slovak Republic.
authors.forename: Silvia Farkašová
authors.initials: SF
authors.lastname: Iannaccone
authors.affiliation: Medico-Legal and Pathological-Anatomical Department of Health Care Surveillance Authority, Letná 47, 040 01, Košice, Slovak Republic.
authors.forename: Vlasta
authors.initials: V
authors.lastname: Vyhnálková
authors.affiliation: Alpha Medical s.r.o., Hraničná 2, 040 17, Košice, Slovak Republic.
authors.forename: Peter
authors.initials: P
authors.lastname: Vasovčák
mesh_terms: D001929:Brain Edema / Q000209:etiology / Q000473:pathology; D002648:Child; D003394:Craniofacial Dysostosis / Q000175:diagnosis / Q000235:genetics; D003398:Craniosynostoses / Q000150:complications / Q000209:etiology / Q000473:pathology*; D003645:Death, Sudden / Q000209:etiology*; D005260:Female; D006801:Humans; D009154:Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: Cerebral edema; Copper-beaten skull; Crouzon syndrome; FGFR2 mutation; Syndromic craniosynostosis