Chiari 1 malformation and holocord syringomyelia in hunter syndrome.

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 c

SUBMITTER: Manara R 

PROVIDER: S-EPMC3897861 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature