AI Article Synopsis
- Chiari malformation Type I (CM-I) is commonly associated with syndromic craniosynostosis in children and typically requires surgical treatment, including cranial vault remodeling and possible posterior fossa decompression.
- A case study highlights a 16-year-old boy diagnosed with CM-I, revealing he unknowingly had Crouzon syndrome after genetic testing and clinical evaluation.
- This is a unique case demonstrating that late adolescent diagnosis of Crouzon syndrome can occur through symptoms linked to CM-I.
Article 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985371 | PMC |
| http://dx.doi.org/10.4103/0976-3147.127885 | DOI Listing |
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