Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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April 19, 2010
Hurler's Syndrome
- Hurler's syndrome is a lysosomal storage disease, resulting in abnormal deposition of mucopolysaccharides (MPS) throughout the body.
- Brain imaging findings in Hurler's Syndrome include macrocephaly and hydrocephalus as a result of MPS deposition in the brain, meninges, and skull, as well as diffuse T2 white matter hyperintensity, dilated perivascular spaces and J-shaped sella.
- In the spine, deposition of MPS in the meninges around the foramen magnum and/or atlanto-axial ligaments produce a soft tissue mass that can compress the cervicomedullary junction. Atlanto-axial subluxation can be seen because of the abnormally thickened ligaments and/or hypolasia of C1 or C2.
- Other findings in spine include dysmorphic vertebral bodies typically with inferior vertebral beaking, posterior vertebral scalloping as well as disc bulges and gibbus deformities.
- Although Hurler's syndrome has a poor prognosis with death typically occurring during the 2nd decade of life, imaging can identify complications such as cervicomedullary compression or hydrocephalus, which can be intervened upon.
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