Open AccessChiari Type I malformation yielded to the diagnosis of Crouzon syndrome
Author(s) -
Aydın Canpolat,
Mehmet Akçakaya,
Muhittin Emre Altunrende,
Harun Mehmet Özlü,
Hakan Duman,
Tuğrul Ton,
Osman Akdemir
Publication year - 2014
Publication title -
journal of neurosciences in rural practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.331
H-Index - 22
eISSN - 0976-3147
pISSN - 0976-3155
DOI - 10.4103/0976-3147.127885
Subject(s) - crouzon syndrome , medicine , craniosynostosis , decompression , surgery , cranial vault , chiari malformation , chiari i malformation , craniosynostoses , radiology , skull , magnetic resonance imaging , syringomyelia
Chiari malformation Type I (CM-I) related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon's syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I.