⌘+K

Pulse Explore Clubs Researchers Journals

Home Clubs Explore

June 9, 2026Neurology

Not-so-adult Onset Krabbe Disease in a Toddler (P7-8.005)

Aditi Tiwari Seva Khambadkone Michael Regner Anna Dennis Amy Yang Kimberly Kripps Xinran Xiang

View Full Paper

Ask AI

Bookmark

Share

Key Points

This report aims to describe an atypical presentation of late infantile-onset Krabbe Disease in a toddler.
Case report of an 18-month-old patient
MRI imaging analysis to identify atypical patterns
Evaluation of haplotypes associated with disease
Identification of a unique MRI pattern not typically associated with toddler onset Krabbe Disease
Detection of specific haplotypes affecting disease progression
Differentiation from classical late infantile-onset presentations

Implication

Case report highlights unusual MRI patterns and haplotype effects in toddler with Krabbe disease, suggesting unique presentations.

Abstract

To highlight an atypical MRI pattern and haplotype effects in an 18-month-old patient with late infantile-onset Krabbe Disease (LIKD).

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Tiwari et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf3d6faef96ed7f056474 https://doi.org/10.1212/wnl.0000000000216522

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Imaging hallmarks of late-infantile onset Krabbe’s disease: Case-based insights - A case report2025
2Late‐onset Krabbe disease presenting as spastic paraplegia – implications of <scp>GCase</scp> and <scp>CTSB</scp>/D2024 · 8 citations
3Spastic Paraplegia Accompanied by Pyramidal Tract Lesions on <scp>MRI</scp> in an Elderly Patient With Krabbe DiseaseOriginal Research · 2026
4A Novel Compound Heterozygous Mutation in the GALC Gene in a Tunisian Family2024
5Krabbe Disease Presenting As Combined Peripheral and Central Demyelinating Disease: A Case Report (P4-4.003)2024