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J Neurosci Rural Pract. 2014 Jan;5(1):81-3. doi: 10.4103/0976-3147.127885.

Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome.

Journal of neurosciences in rural practice

Aydin Canpolat, Mehmet Osman Akçakaya, Emre Altunrende, Harun Mehmet Ozlü, Hakan Duman, Tuğrul Ton, Osman Akdemir

Affiliations

  1. Department of Neurosurgery, Taksim Training and Research Hospital, Istanbul, Turkey.

PMID: 24741262 PMCID: PMC3985371 DOI: 10.4103/0976-3147.127885

Abstract

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.

Keywords: Chiari malformation Type I; Crouzon syndrome; craniosynostosis; posterior fossa decompression

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