Critical issues for the proper diagnosis of Metachromatic Leukodystrophy

Urine sulfatides and the diagnosis of metachromatic leukodystrophy.

A deficiency of the lysosomal enzyme arylsulfatase A (ASA) causes the lysosomal storage disorder metachromatic leukodystrophy (MLD). The diagnosis of MLD is straightforward in cases with deficient leukocyte or fibroblast ASA activity and a typical clinical history. However, several atypical and late-onset forms of MLD have been described. The diagnosis is also complicated by the high frequency ...

MR of childhood metachromatic leukodystrophy.

PURPOSE To investigate the MR findings of childhood metachromatic leukodystrophy (MLD). METHODS Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were evaluated retrospectively for the extent and progression of white matter abnormalities and the presence of contrast enhancement. RESULTS All seven cases showed symmetric, confluent high signal i...

Metachromatic leukodystrophy: two sides of a coin.

Developing therapeutic approaches for metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase A (ASA), resulting in impaired degradation of sulfatide, an essential sphingolipid of myelin. The clinical manifestations of MLD are characterized by progressive demyelination and subsequent neurological symptoms resulting in severe debilitation. The availability of therapeu...

Adult-type metachromatic leukodystrophy mimicking multiple sclerosis.

recessive lysosomal storage disease caused by a deficiency of arylsulphatase A (ASA). It is characterized by accumulation of sulphatide in the white matter in the central nervous system and peripheral nerves1. The disease is divided in four subtypes, according to onset, severity and progression of the disease: late infantile (before age 4), early juvenile (age 4 to 6), late juvenile (age 6 to 1...