Metachromatic Leukodystrophy MLD

Synonyms:

a.k.a. arylsulfatase A deficiency

Diagnosis:

A type of leukodystrophy a.k.a. dysmyelination
Enzyme activity:

  • Reduced arylsufatase A deficiency
  • Test leukocytes

Urine: sulfatide accumulation

Clinical features:

Peripheral neuropathy

Findings on investigations:

Electrophysiology:

  • Demyelinating sensorimotor Peripheral neuropathy

Imaging:

  • Symmetrical demyelination, corpus callosum, centrum semiovale, cerebellum, spares the cortical U fibres. Multifocal frontal lobe lesions can occur.
  • Atrophy, corpus callosum thinning, ventricular dilatation.
  • T2: hyperintense
  • No enhancement

Pathology:

Neurons containing Metachromatic staining lipid granules (sulfatides)
Toluidine blue: pink metachromasia
Cresyl violet: brown metachromasia
CNS and peripheral nerve diffuse myelin loss
Symmetrical demyelination

Genetics:

Autosomal recessive

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