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<p>Krabbe disease is an autosomal recessive leukodystrophy where a deficiency of the galactosylceramide beta-hydrolase enzyme leads to accumulation of toxic substances which cause demyelination in both central and peripheral nervous systems. It is classified into early infantile, late infantile, juvenile and adult types based on the age of presentation. MRI of the brain in patients with Krabbe disease shows bilaterally symmetrical T2 hyperintense signal in the periventricular and deep white matter and in the corticospinal tracts. Patients can have peripheral neuropathy, which, on imaging, is commonly seen in the form of thickening and enhancement of cranial nerves and nerve roots of cauda equina. Our patient, a child aged eleven years, had intracranial lesions along with brachial plexopathy. This is the first described case of juvenile-onset Krabbe disease with brachial plexus involvement.</p>

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Brachial plexopathy in juvenile-onset Krabbe disease: A rare case

  • 期刊论文

  • 发表日期：

    2026年2月9日

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  • Vaishali Upadhyaya,
  • Konika Bansal

摘要

Krabbe disease is an autosomal recessive leukodystrophy where a deficiency of the galactosylceramide beta-hydrolase enzyme leads to accumulation of toxic substances which cause demyelination in both central and peripheral nervous systems. It is classified into early infantile, late infantile, juvenile and adult types based on the age of presentation. MRI of the brain in patients with Krabbe disease shows bilaterally symmetrical T2 hyperintense signal in the periventricular and deep white matter and in the corticospinal tracts. Patients can have peripheral neuropathy, which, on imaging, is commonly seen in the form of thickening and enhancement of cranial nerves and nerve roots of cauda equina. Our patient, a child aged eleven years, had intracranial lesions along with brachial plexopathy. This is the first described case of juvenile-onset Krabbe disease with brachial plexus involvement.