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@article{174411,
        author = {Dr Ankit Anand and Dr Arun Vannur},
        title = {“A Silent Struggle: Rapid Neurodegeneration in Infantile Krabbe Disease – A Case Report”},
        journal = {International Journal of Innovative Research in Technology},
        year = {2025},
        volume = {11},
        number = {10},
        pages = {4191-4193},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=174411},
        abstract = {Background: Krabbe disease is a rare autosomal recessive leukodystrophy caused by a deficiency of the galactocerebrosidase (GALC) enzyme, leading to progressive demyelination and neurodegeneration. Infantile Krabbe disease typically presents within the first six months of life with irritability, hypertonia, developmental regression, and optic atrophy.
Case Presentation:We report a case of a 6-month-old male infant who presented with increasing irritability, feeding difficulties, and progressive loss of motor milestones over two months. Clinical examination revealed hypertonia, spasticity, exaggerated deep tendon reflexes, and optic nerve atrophy. MRI of the brain showed characteristic leukodystrophic changes, and enzymatic analysis confirmed markedly reduced GALC enzyme activity. Despite supportive care, the infant exhibited rapid neurological decline, developing respiratory distress and bulbar dysfunction. The child succumbed to respiratory failure at 9 months of age.
Conclusion:Infantile Krabbe disease remains a devastating neurodegenerative disorder with limited treatment options. Early recognition through neuroimaging, enzyme assays, and genetic confirmation is crucial for diagnosis and counselling. Hematopoietic stem cell transplantation (HSCT) may offer potential benefits if initiated pre-symptomatically, emphasizing the need for newborn screening in at-risk populations.},
        keywords = {},
        month = {March},
        }