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Adult onset Krabbe's leukodystrophy: a report of 2 cases
Author(s) -
Turazzini M.,
Beltramello A.,
Bassi R.,
Colle R.,
Silvestri M.
Publication year - 1997
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1997.tb00308.x
Subject(s) - leukodystrophy , krabbe disease , asymptomatic , medicine , pediatrics , sibling , magnetic resonance imaging , white matter , juvenile , disease , pathology , psychology , radiology , developmental psychology , biology , genetics
Krabbe's disease with adult onset is rare; neurological symptoms begin in childhood or at a juvenile age. Two brothers with adult onset of the disease are here reported; 1 sibling developed parapareto‐ataxic gait while the other was asymptomatic. Magnetic resonance imaging showed areas of demyelination in the white matter of the brain, while nerve conduction was completely normal. In both patients deficiency of galactosylceramide beta‐salactosidase was comnarable to the infantile form.