Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome

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.

Adult Chiari Type 1 Malformation with Holocord Syringomyelia Associated with Sagittal Synostosis

“… 2 – 4) These conditions are usually diagnosed in infancy, or in pre-adolescence at the latest. 2 – 4 , 8) This is the first report of adult symptomatic syringomyelia induced by CM coexisting with sagittal suture synostosis. We thought that cerebellar tonsil of this case herniated only a little into the foramen magnum in the preoperative sagittal MRI.…”