Infantile Krabbe disease (IKD) is a rapidly progressive leukodystrophy for which hematopoietic stem cell transplantation (HCT) offers the only disease-modifying treatment. HCT must occur presymptomatically, ideally by 30 days of life, to optimize survival and neurodevelopmental outcomes. With the expansion of newborn screening for Krabbe disease (KD), pediatric neurologists and geneticists will be responsible for obtaining urgent diagnostic testing and connecting families to experts for information and treatment. Given the variability in state-specific screening protocols, clinicians must be familiar with their local algorithms to act quickly on receiving abnormal results and refer to nearby, specialty treatment centers. Informed consent discussions must clearly outline the natural history of untreated IKD, the requirement for rapid, presymptomatic treatment, and provide a realistic view of the benefits and limitations of HCT. Supportive and palliative care should be prioritized regardless of treatment choice. This publication provides expert guidance on interpreting newborn screening results, conducting rapid confirmatory testing, and referring to and/or establishing treatment centers ready to care for IKD. With anticipatory planning and interdisciplinary collaboration, pediatric specialists can provide accurate diagnosis, compassionate counseling, and expedited evaluation to meet the narrow window for effective HCT.
Stone et al. (Wed,) studied this question.
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