Krabbe Disease English Presentation

In this educational episode from Professor Mohammadi’s Teaching Archives, we review a challenging clinical case of infantile Krabbe disease, a rare but devastating leukodystrophy of early infancy. Through a realistic pediatric neurology vignette, we explore the key clinical red flags, including progressive irritability, feeding difficulty, developmental regression, mixed central and peripheral neurologic signs, and visual impairment. The discussion highlights the diagnostic pathway, including MRI findings, elevated CSF protein, demyelinating neuropathy on nerve conduction studies, low GALC enzyme activity, elevated psychosine, and GALC genetic confirmation. We also focus on the critical management decision: why hematopoietic stem cell transplantation is most beneficial before clear symptoms develop, and why a symptomatic infant requires multidisciplinary supportive and palliative-centered care. This episode is designed for pediatricians, pediatric neurologists, trainees, and healthcare professionals interested in leukodystrophies, neurogenetics, and clinical reasoning in pediatric neurology.