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Late infantile Krabbe leukodystrophy: MRI and evoked potentials in a Japanese girl
T Kurokawa1, Y J Chen, M Nagata
1Department of Pediatrics, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Insights
This study reports a rare case of late infantile Krabbe disease in a Japanese girl, diagnosed using MRI and evoked potential tests. The findings highlight key diagnostic markers for this severe neurological disorder.
Area of Science:
- Pediatric Neurology
- Neurodegenerative Diseases
- Enzyme Deficiencies
Background:
- Krabbe disease is a rare, severe lysosomal storage disorder.
- Typically presents in early infancy, but late-onset forms exist.
- Diagnosis relies on enzyme assays, genetic testing, and neuroimaging.
Observation:
- A 16-month-old Japanese girl exhibited developmental regression, spastic diplegia, and elevated cerebrospinal fluid protein.
- Magnetic resonance imaging revealed characteristic T2 hyperintensities in the centrum semiovale.
- Electrophysiological studies showed abnormalities in somatosensory evoked potentials (SSEPs) and brainstem auditory evoked potentials (BAEPs).
Findings:
- Deficiency in galactosylceramidase I was confirmed, indicating Krabbe disease.
- MRI findings were consistent with demyelination in the white matter.
- Abnormal SSEPs (prolonged N13-N20 latency, N20 abolition) and BAEPs (prolonged I-V interpeak latency) supported central nervous system involvement.
Implications:
- This case may represent the late infantile form of Krabbe disease.
- Highlights the utility of advanced neuroimaging and evoked potentials in diagnosing atypical presentations.
- Emphasizes the importance of considering Krabbe disease in infants with unexplained neurological deterioration.
Abstract:
A Japanese girl showed deterioration in development from the age of 13 months. At the age of 16 months, there were mild spastic diplegia, increase in cerebrospinal fluid protein to 61.5 mg/dl and deficient galactosylceramidase I. Magnetic resonance imaging (MRI) demonstrated a high signal intensity with increased T2 in the centrum semiovale. Short latency somatosensory evoked potentials (SSEPs) showed a prolonged N13-N20 interpeak latency followed by abolition of N20. Brainstem auditory evoked potentials (BAEPs) were normally followed by prolonged interpeak latencies of wave I-V. This may be the first report of what we consider to be the late infantile form of Krabbe disease with MRI and evoked potential examinations.