Abstract

Adult-onset Krabbe disease is an autosomal recessive degenerative leukodystrophy that presents with bilateral corticospinal tract involvement on MRI. Although peripheral nerve involvement is a known manifestation of Krabbe disease, MRI findings of peripheral nerve abnormalities are limited to the cranial nerves and spinal nerve roots. In this case report, we discuss two cases of adult-onset Krabbe disease with brachial plexus enlargement on MRI. Adult-onset Krabbe disease should be included in the differential diagnoses when brachial plexus enlargement and white matter lesions involving corticospinal tracts present simultaneously.

Highlights

  • SUMMARY Adult-onset Krabbe disease is an autosomal recessive degenerative leukodystrophy that presents with bilateral corticospinal tract involvement on MRI

  • Peripheral nerve involvement is a known manifestation of Krabbe disease, MRI findings of peripheral nerve abnormalities are limited to the cranial nerves and spinal nerve roots

  • Adult-onset Krabbe disease should be included in the differential diagnoses when brachial plexus enlargement and white matter lesions involving corticospinal tracts present simultaneously

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Summary

Introduction

CLINICAL PRESENTATION AND INVESTIGATIONS Case 1 A 22-year-old female was admitted to our hospital with weakness in her left hand. When she was 20 years old, she began experiencing difficulty with moving her right hand while changing her clothes. MRI of the brain showed hyperintensity of the left corticospinal tract on T2 weighted images. When she was 22 years old, she began to feel numbness in both hands and weakness in her left hand. The numbness spread to both upper extremities

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