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Krabbe disease: unusual MRI findings
Veena A Nagar1, Meher A Ursekar, Pradeep Krishnan
1Jankharia Imaging Centre, Bhaveshwar Vihar, 383 Sardar V P Road, Mumbai, 400004, India. drv9@hotmail.com
Pediatric Radiology
|October 26, 2005
Summary
This study details MRI and MR spectroscopy findings in infantile-onset Krabbe disease, highlighting optic nerve and cervical cord enlargement alongside typical white matter changes.
Area of Science:
- Neurology
- Radiology
- Biochemistry
Background:
- Krabbe disease is a rare, fatal lysosomal storage disorder.
- Infantile-onset Krabbe disease presents with severe neurological impairment.
- Early diagnosis is crucial for potential therapeutic interventions.
Observation:
- This case report details the magnetic resonance imaging (MRI) findings in a patient with infantile-onset Krabbe disease.
- MRI revealed characteristic white matter abnormalities and thalamic involvement.
- Unusual findings included enlargement of the intracranial optic nerves and cervical spinal cord.
Findings:
- MRI demonstrated diffuse white matter changes, T2 hyperintensities in the thalami, and globus pallidus.
- Significant enlargement of the intracranial optic nerves and cervical cord was observed.
- Proton MR spectroscopy (MRS) findings consistent with Krabbe disease were reviewed.
Implications:
- These imaging findings expand the understanding of Krabbe disease's phenotypic spectrum.
- Optic nerve and cervical cord enlargement may serve as additional diagnostic markers.
- Advanced neuroimaging and spectroscopy are vital for comprehensive Krabbe disease assessment.