Imaging hallmarks of late-infantile onset Krabbe’s disease: Case-based insights - A case report

Krabbe disease is a rare autosomal recessive leukodystrophy, most commonly presenting in infancy with rapid neurological decline. We report a case of a 10-month-old female who presented with developmental delay, poor feeding, and central hypotonia. Brain magnetic resonance imaging revealed bilateral symmetrical T2 hyperintensities in the periventricular white matter of the cerebral and cerebellar hemispheres and in the dentate nucleus hilum. Nerve conduction studies showed evidence of motor demyelinating polyneuropathy, and otoacoustic emission screening revealed hearing impairment in the right ear. Genetic analysis confirmed a likely pathogenic variant associated with Krabbe disease. This case highlights the value of integrating imaging, electrophysiological studies, and genetic findings in diagnosing infantile leukodystrophies.