Deceptively normal MR in early infantile Krabbe disease
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Published on: December 13, 2013
D A Finelli1, R W Tarr, R N Sawyer
1Department of Radiology, University Hospitals of Cleveland, Case Western Reserve University School of Medicine, OH 44106.
Insights
Early infantile Krabbe disease can present with characteristic CT findings. However, initial MR imaging may appear normal, highlighting the importance of serial imaging for diagnosis.
Area of Science:
- Pediatric Neurology
- Neuroradiology
- Genetic Metabolic Disorders
Background:
- Krabbe disease is a rare, severe lysosomal storage disorder affecting myelin.
- Early infantile Krabbe disease typically presents within the first few months of life.
- Neuroimaging plays a crucial role in the diagnosis and management of Krabbe disease.
Abstract:
The authors present two cases of 5-month-old children with early infantile Krabbe disease studied by CT and MR. Both infants had characteristic CT scans for the disease consisting of symmetric hyperdensity involving the cerebellum, thalami, caudate, corona radiata, and brain stem. One of the infants had a deceptively normal initial MR examination, with dramatic progression of the white-matter disease over the following 4 months.
