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A case of late‐onset Krabbe disease which showed subacute progression of spastic paresis with bilateral spinal cord lesions
Author(s) -
Mitsutake Akihiko,
Matsukawa Takashi,
Ishiura Hiroyuki,
Mitsui Jun,
Taira Kenichiro,
Tokushige Shinichi,
Iwata Atsushi,
Terao Yasuo,
Shimizu Jun,
Sakai Norio,
Tsuji Shoji
Publication year - 2018
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12188
Subject(s) - medicine , krabbe disease , spinal cord , magnetic resonance imaging , lumbar , internal capsule , paresis , pathology , pyramidal tracts , leukodystrophy , disease , anatomy , radiology , white matter , psychiatry
We report a 16‐year‐old boy with the late‐onset form of Krabbe disease. The patient had been free of neuromuscular diseases until he showed subacute progression of spastic paraparesis at age 15. There was no evident peripheral neuropathy. Magnetic resonance imaging (MRI) of the brain and the spinal cord showed T2‐weighted high‐intensity lesions along the bilateral pyramidal tract from the internal capsule to the lumbar cord. Bilateral pyramidal tract involvement raised the possibility of late‐onset Krabbe disease. A markedly reduced galactocerebrosidase activity and a homozygous known pathogenic mutation in the GALC gene confirmed the diagnosis. This case was unique in that the progression was subacute and the lesions from the cervical to the lumbar cord were clearly shown by MRI.