MR Findings in a Family with Spastic Paraparesis ... - For Members

2003 ASNR Annual Meeting Abstracts
03-SPP-590-ASNR
MR Findings in a Family with Spastic
Paraparesis and Diffuse White Matter
Disease
Author(s):
Agostinis, C. 1·Censori, B. 1·Partziguian, T. 1·Savoiardo, M. 2·Bizzi,
A. 2·Bertagnolio, M. C. 2·Pareyson, D. 2·Bonaldi, G. 1
1 Ospedali Riuniti, Bergamo, ITALY, 2 Istituto Neurologico, Milan, ITALY.
Purpose
Hereditary spastic paraplegia is a pathologic entity comprehending clinically and
genetically different forms. We describe the peculiar MR findings of an Italian family
affected by a severe form of hereditary spastic paraparesis.
Materials & Methods
Five of 7 offsprings of nonaffected consanguineous parents of this family presented
neurologic abnormalities: they underwent conventional MR examination using a 1.5 T
magnet. One patient had MR spectroscopy. A complete neurologic evaluation as well as
neurophysiologic studies and metabolic tests also were performed.
Results
Diffuse MR abnormalities were documented in both the posterior fossa structures and
cerebral hemispheres. White matter was predominantly involved, with diffuse T2
hyperintensity in the centrum ovale, internal capsule, and cerebellar peduncles
(particularly the superior). The periaqueductal area was also abnormal. Thalami, basal
ganglia, and perirolandic gyri appeared hypointense on T2 sequences.
Conclusion
Although the metabolic workup did not show abnormalities we considered it of interest to
report this family for the surprising homogeneity of the neurologic findings and the
peculiar involvement of some structures which might suggest a mitochondrial
encephalopathy.
References
1. Fink JK, Heiman-Patterson T. (for the Hereditary Spastic Paraplegia Working Group).
Hereditary spastic paraplegia: Advances in genetic research. Neurology
1996;46:1507-1514
2. Riggs JE, Ellis BD, Hogg JP, et al. Acute periaqueductal syndrome associated with
the G11778A mitochondrial DNA mutation. Neurology 2001;56:570-571
© 2003 ASNR. All rights reserved.

2003 ASNR Annual Meeting Abstracts
3. Turpin J-C, Gray F, Baumann N. Leukodystrophies. In: Encyclopedie Médico-
Chirurgicale. Vol. 5 Paris: 17-76-D-10,1-16
© 2003 ASNR. All rights reserved.