Case report reveals spastic paraplegia linked to Krabbe disease in an elderly individual, suggesting differential diagnosis consideration.
Krabbe disease is a rare disorder mostly in early infancy that presents with blindness, weakness, and cognitive impairment. Herein, we report the case of a 65‐year‐old man who first noticed gait difficulty in his 40s, which gradually worsened over the subsequent 25 years. At admission, the patient showed bilateral weakness, predominantly affecting the lower extremities. MRI revealed bilateral hyperintense lesions extending along the pyramidal tracts and into the parietal white matter. Galactocerebrosidase activity in the peripheral blood decreased and two heterozygous GALC variants (c.1901T>C and c.175G>C), possibly in trans , were identified, confirming the diagnosis of late‐onset Krabbe disease. This case indicates that Krabbe disease should be considered as a differential diagnosis of spastic paraplegia in elderly patients.
No takes yet. Share an insight, caveat, or question.
Nozuchi et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: