Abstract
Compressive cervical myelopathy is a well-known life-threatening complication in mucopolysaccharidosis (MPS) patients. Glycosaminoglycan accumulation in the growing cartilage results in dens dysplasia, atlanto-axial instability, and subsequent periodontoid fibrocartilaginous tissue deposition with upper cervical stenosis.
Chiari malformation type 1 (CM1) is a congenital downward cerebellar tonsil ectopia determined by clivus and posterior cranial fossa underdevelopment, possibly leading to progressive spinal cord cavitation (syringomyelia) and severe neurological impairment.
We present a boy affected with Hunter syndrome (MPS II) and cerebellar tonsil ectopia who developed a holocord syringomyelia at the age of 6 years. The child underwent atlanto-occipital decompressive surgery with rapid clinical and neuroimaging improvement.
Sharing a primary mesenchymal involvement of the cervical-occipital region, the coexistence of CM1 in MPS might be not unexpected and complicate further the disease course. In these patients, strict monitoring and prompt treatment might be of foremost importance for preventing major neurological complications.
Competing interests: None declared
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Aitken LA, Lindan CE, Sidney S, Gupta N, Barkovich AJ, Sorel M, Wu YW (2009) Chiari type I malformation in a pediatric population. Pediatr Neurol 40(6):449–454
Attenello FJ, McGirt MJ, Gathinji M et al (2008) Outcome of Chiari-associated syringomyelia after hindbrain decompression in children: analysis of 49 consecutive cases. Neurosurgery 62:1307–1313
Ballenger CE, Swift TR, Leshner RT, El Gammal TA, McDonald TF (1980) Myelopathy in mucopolysaccharidosis type II (Hunter syndrome). Ann Neurol 7(4):382–385
Feldstein NA, Choudhri TF (1999) Management of Chiari I malformations with holocord syringohydromyelia. Pediatr Neurosurg 31:143–149
Ferna´ndez AA, Guerrero AI, MartÃnez MI et al (2009) Malformations of the craniocervical junction (Chiari type I and syringomyelia: classification, diagnosis and treatment). BMC Musculoskelet Disord 10(Suppl I):S1–S11
Finn CT, Vedolin L, Schwartz IV et al (2008) Magnetic resonance imaging findings in Hunter syndrome. Acta Paediatr Suppl 97(457):61–68
Greenlee JDW, Donovan KA, Hasan DM, Menez AH (2002) Chiari I malformation in the very young child: the spectrum of presentations and experience in 31 children under age 6 yrs. Pediatrics 110:1212–1219
Hite SH, Krivit W, Haines SJ, Whitley CB (1997) Syringomyelia in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): imaging findings following bone marrow transplantation. Pediatr Radiol 27(9):736–738
Isu T, Iwasaki Y, Akino M, Abe H (1990) Hydrosyringomyelia associated with a Chiari I malformation in children and adolescents. Neurosurgery 26:591–597
Kaendler S, Bockenheimer S, Gräfin Vitzthum H, Galow W (1990) Cervical myelopathy in mucopolysaccharidosis type II (Hunter's syndrome). Neuroradiologic, clinical and histopathologic findings. Dtsch Med Wochenschr 7;115(36): 1348–1352
Manara R, Priante E, Grimaldi M et al (2011) Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis 34(3):763–780
Manara R, Priante E, Grimaldi M et al (2012) Closed Meningo(encephalo)cele: a new feature in Hunter syndrome. Am J Neuroradiol 33(5):873–877
Martin R, Beck M, Eng C et al (2008) Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121:e377–e386
Masson C, Colombani JM (2005) Chiari type 1 malformation and magnetic resonance imaging. Presse Med 34(21):1662–1667
Milhorat TH, Nishikawa M, Kula RW, Dlugacz YD (2010) Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management. Acta Neurochir (Wien) 152(7)
Northover H, Cowie RA, Wraith JE (1996) Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis 19(3):357–365
O’Brien DP, Cowie RA, Wraith JE (1997) Cervical decompression in mild mucopolysaccharidosis type II (Hunter syndrome). Childs Nerv Syst 13:87–90
Shah S, Haughton V, del RÃo AM (2011) CSF flow through the upper cervical spinal canal in Chiari I malformation. Am J Neuroradiol 32(6):1149–1153
Singhal A, Bowen-Roberts T, Steinbok P, Cochrane D, Byrne AT, Kerr JM (2011) Natural history of untreated syringomyelia in pediatric patients. Neurosurg Focus 31(6):E13
Vinchon M, Cotten A, Clarisse J, Chiki R, Christiaens JL (1995) Cervical myelopathy secondary to Hunter syndrome in an adult. Am J Neuroradiol 16(7):1402–1403
Wu YW, Chin CT, Chan KM, Barkovich AJ, Ferriero DM (1999) Pediatric Chiari I malformations: do clinical and radiologic features correlate? Neurology 53:1271–1276
Young ID, Harper PS, Archer IM, Newcombe RG (1982) A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity. J Med Genet 19(6):401–407
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Ed Wraith
Take-Home Messages
Take-Home Messages
The coexistence of Chiari 1 malformation in mucopolysaccharidosis patients might predispose to early myelopathy and prompts for strict clinical and MR monitoring; in these cases, Chiari 1 malformation might have a different pathogenesis than posterior cranial fossa underdevelopment.
Rights and permissions
Copyright information
© 2013 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Manara, R. et al. (2013). Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 12. JIMD Reports, vol 12. Springer, Cham. https://doi.org/10.1007/8904_2013_241
Download citation
DOI: https://doi.org/10.1007/8904_2013_241
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-03460-7
Online ISBN: 978-3-319-03461-4
eBook Packages: MedicineMedicine (R0)