Abstract
HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy
whose main clinical manifestations include parkinsonism, spasticity, and ataxia. Genetic
defects in the colony-stimulating factor 1 receptor (CSF1R) gene have been reported
in many HDLS cases. The present report describes a new missense mutation Arg777Gln
involving exon 18 of the CSF1R gene in a sporadic patient presenting with tumor-like
lesions mimicking primary progressive multiple sclerosis. The patient was initially
diagnosed with a progressive variant of multiple sclerosis and received inadequate
treatments. Although most HDLS cases have a positive family history, this disease
should also be suspected in sporadic patients showing unusual white matter lesions
at MRI.
Keywords
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Article info
Publication history
Published online: September 13, 2013
Accepted:
August 14,
2013
Received in revised form:
July 15,
2013
Received:
April 19,
2013
Identification
Copyright
© 2013 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
