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