Objective: To analyze the association of diverse cerebral anomalies in a series of pediatric patients with cerebellar tonsillar ectopia. Methods: We reviewed the medical records of 60 children diagnosed with Chiari type 1 malformation (CM1), of these, 20 patients (11 boys and 9 girls; mean age 7.2 years, range 2–16 years) had an associated cerebral anomaly. Symptoms of tonsillar ectopia evolved over a mean of 12 months (range 3 months to 4 years). Syringomyelia was present in 5 cases. All patients underwent a posterior fossa decompression. Results: Disclosed anomalies included: congenital hydrocephalus (n = 11), cervicomedullary kinking (n = 5), focal cerebral heterotopia with epilepsy (n = 4), partial agenesis of the corpus callosum (n = 4), hypoplastic brain stem (n = 2), holoprosencephaly (n = 1), and subcortical dysplasia in the context of neurofibromatosis type 1 (n = 1). Other malformations included: subcortical hamartoma associated with neurofibromatosis type 1, craniofacial dysmorphism secondary to Noonan syndrome, congenital occipital plagiocephaly, os odontoideum, craniofacial cleft, juvenile rheumathoid arthritis with platybasia, and osteogenesis imperfecta with bathrocephaly and scoliosis. Conclusion: Craniocerebral anomalies in children treated for CM1 may be found consistently. The association of hydrocephalus, which was the most common anomaly in this cohort, with cerebellar tonsillar ectopia may contribute to a poor outcome in regard to tonsillar herniation symptoms.

Keywords:
Cerebellar tonsillar ectopia, Chiari type 1 malformation, Cerebral dysgenesis, Hydrocephalus, Congenital central nervous system malformations, Craniovertebral junction
1.
Sarnat HB: Cerebral Dysgenesis: Embryology and Clinical Expression. New York, Oxford University Press, 1992, pp 333–348.
2.
Chiari H: Über Veränderungen des Kleinhirns infolge von Hydrocephalie des Grosshirns (in German). Dtsch Med Wschr 1891;17:1172–1175.
3.
Tubbs RS, McGirt MJ, Oakes WJ: Surgical experience in 130 patients with Chiari I malformation. J Neurosug 2003;99:291–296.
4.
Grosso S, Scattolini R, Paolo G, Di Bartolo RM, Morgese G, Balestri P: Association of Chiari I malformation, mental retardation, speech delay, and epilepsy: a specific disorder? Neurosurgery 2001;49:1099–1104.
5.
Iannetti P, Spalice A, De Felice Ciccoli C, Bruni O, Festa A, Maini CL: Seizures in paediatric Chiari type I malformation: the role of single-photon emission computed tomography. Acta Paediatr 2002;91:313–317.
6.
Sener RN: Chiari I malformation associated with callosal dysgenesis and ectopic neurohypophysis. Comput Med Imaging Graph 1995;19:487.
7.
Hunter JV, Youl BD, Moseley IF: MRI demonstration of midbrain deformity in association with the Chiari malformation. Neuroradiology 1992;34:399–401.
8.
Mesiwala AH, Shaffrey CI, Gruss JS, Ellenbogen RG: Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: further evidence indicating that Chiari I malformation is a disorder of the paraaxial mesoderm. Case report and review of the literature. J Neurosurg 2001;95:1034–1039.
9.
Battistella PA, Perilongo G, Carollo C: Neurofibromatosis type 1 and type I Chiari malformation: an unusual association. Childs Nerv Syst 1996;12:336–338.
10.
Lin KY, Gampper TJ, Jane JA Sr: Correction of posterior sagittal craniosynostosis. J Craniofac Surg 1998;9:88–91.
11.
Renier D, Cinalli G, Lajeunie E, Arnaud E, Marchac D: Oxycephaly, a severe craniosynostosis. Apropos of a series of 129 cases (in French). Arch Pediatr 1997;4:722–729.
12.
Tubbs RS, Elton S, Blount JP, Oakes WJ: Preliminary observations on the association between simple metopic ridging in children without trigonocephaly and the Chiari I malformation. Pediatr Neurosurg 2001;35:136–139.
13.
Colli R, Colombo P, Russo F, Sterpa A: Type 1 Arnold Chiari malformation in a subject with Noonan syndrome (in Italian). Pediatr Med Chir 2001;23:61–64.
14.
Holder-Espinasse M, Winter RM: Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? Clin Dysmorphol 2003;12:275.
15.
Hung PC, Wang HS, Lui TN: Association of oto-palato-digital syndrome type II and Arnold-Chiari I malformation in an infant. Brain Dev 1999;21:488–490.
16.
Galarza M, Sood S, Ham S: Impact of surgical strategies in Chiari type I malformations: analysis in 60 patients. Childs Nerv Syst 2007:32:121–125.
17.
Goel A, Bhatjiwale M, Desai K: Basilar invagination: a study based on 190 surgically treated patients. J Neurosurg 1998;88:962–968.
18.
Menezes AH: Primary craniovertebral anomalies and the hindbrain herniation syndrome (Chiari I): data base analysis. Pediatr Neurosurg 1995;23:260–269.
19.
Lazareff JA, Galarza M, Gravori T, Spinks TJ: Tonsillectomy without craniectomy for the management of infantile Chiari I malformation. J Neurosurg 2002;97:1018–1022.
20.
Tubbs RS, Iskandar BJ, Bartolucci AA, Oakes WJ: A critical analysis of the Chiari 1.5 malformation. J Neurosurg 2004;101 (2 suppl):179–183.
21.
Brill CB, Gutierrez J, Mishkin MM: Chiari I malformation: association with seizures and developmental disabilities. J Child Neurol 1997;12:101–106.
22.
Milhorat TH, Chou MW, Trinidad EM, et al: Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 1999;44:1005–1017.
23.
Stovner LJ, Bergan U, Nilsen G, Sjaastad O: Posterior cranial fossa dimensions in the Chiari I malformation: relation to pathogenesis and clinical presentation. Neuroradiology 1993;35:113–118.
© 2011 S. Karger AG, Basel
2011
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.