Metachromatic leukodystrophy (MLD) by Alexander Kurz
Metachromatic leukodystrophy (MLD) is an autosomal recessive
disorder of myelin metabolism. Due to the deficiency of the
enzyme arylsulfatase A sulfatides (cerebroside sulfate)
accumulate in the white matter of the central and peripheral
nervous system as well as in other body organs including kidney,
liver, pancreas, testes, and retina. The sulfatides show a
peculiar staining which is called „metachromatic“. There are
late infantile, juvenile, and adult variants of the disease.
Symptoms and course In the adult variant of MLD onset may occur
from the mid-teens to the seventh decade. The most common signs
are personality or behavioural change and signs of intellectual
deterioration. Patients show impairment of memory and
concentration, and their behaviour becomes childish. Atypical
psychotic features are common and often lead to a misdiagnosis
of schizophrenia. Progressive dementia is usually accompanied by
spasticity, unvoluntary movements, emotional labili