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Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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Leukodystrophy presenting as acute-onset polyradiculoneuropathy.

Rachana Dubey1, Biswaroop Chakrabarty1, Sheffali Gulati1

  • 1Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Pediatric Neurology
|April 2, 2014
PubMed
Summary
This summary is machine-generated.

This case study describes an unusual presentation of metachromatic leukodystrophy (MLD) in a child, highlighting the diagnostic challenges and potential overlap with immune-mediated neuropathies.

Area of Science:

  • Neuroscience
  • Biochemistry
  • Genetics

Background:

  • Sulfatides are crucial glycosphingolipids in myelin, degraded by sphingolipid activator protein and arylsulfatase A.
Keywords:
arylsulfatase Aimmunotherapymetachromatic leukodystrophyperipheral neuropathysulfatides

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  • Deficiencies in these components lead to metachromatic leukodystrophy (MLD), with varied onset subtypes.
  • Late infantile MLD, the most common form, can initially present with peripheral neuropathy.