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Case Reports
. 2014 Jan;5(1):81-3.
doi: 10.4103/0976-3147.127885.

Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome

Aydin Canpolat  1 , Mehmet Osman Akçakaya  1 , Emre Altunrende  1 , Harun Mehmet Ozlü  1 , Hakan Duman  1 , Tuğrul Ton  1 , Osman Akdemir  1
Affiliations
Case Reports

Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome

Aydin Canpolat et al. J Neurosci Rural Pract. 2014 Jan.

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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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
(a and b) Photographs show characteristic features of syndromic craniosynostoses in our patient: Hypertelorism, proptosis, midfacial hypoplasia, and abnormal head shape. (Published with permission and informed consent of the patient)
Figure 2
Figure 2
(a) Anteroposterior (AP) and lateral plain radiographs of head shows increase of AP diameter of the head and midfacial-orbital hypoplasia. Fusion of multiple calvarial sutures is also remerkable, (b) Axial cranial computed tomography scan demonstrated the abnormal head shape and the fusion of bilateral coronal and lambdoid sutures alongside with sagittal suture
Figure 3
Figure 3
Sagittal T2-weighted magnetic resonance imaging shows a 18 mm cerebellar tonsil herniation into the foramen magnum with accompanying syringomyelia between Th 4 and Th 7 with the largest thickness of 11 mm
Figure 4
Figure 4
(a) Sagittal T2-weighted MRI of the craniocervical junction showed complete resolution of 18 mm cerebellar tonsil herniation, (b) Sagittal T2-weighted thoracal MRI showed relative resolution of the accompanying syringomyelia between Th 4 and Th 7 with the largest thickness of 7 mm
See this image and copyright information in PMC

References

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