2024年12月17日 · Metachromatic leukodystrophy (MLD) is the most common hereditary (autosomal recessive) leukodystrophy and is one of the lysosomal storage disorders. It has characteristic imaging features including peri-atrial and to a lesser extent frontal horns leukodystrophy as well as periventricular perivenular sparing results in " tigroid pattern " on ...

Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre-symptomatic disease stages, these typical MRI changes might …

Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. Thus, recognizing this involvement is important when leukodystrophies are suspected, although there are exceptions to this pattern (12).

2009年11月1日 · Metachromatic leukodystrophy (MLD) is an autosomal recessive inherited disorder in which defective desulfation of glycolipids results in demyelination within the central and peripheral nervous system.

2023年7月17日 · Metachromatic leukodystrophy is a rare lysosomal storage disease caused due to deficient activity of arylsulfatase A. It follows an autosomal recessive pattern of inheritance. It is a serious condition and causes death within 5-6 years in early-onset form.

2024年9月25日 · The leukodystrophy “vanishing white matter” (VWM) and “metachromatic leukodystrophy” (MLD) affect the brain's white matter, but have very different underlying pathology. We aim to determine whether quantitative MRI reflects known neuropathological differences and correlates with clinical scores in these leukodystrophies.

Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to demyelination and subsequently to a progressive decline in cognitive and motor function. It affects mainly white matter where changes during the course of the disease can be visualized on T2-weighted MRI as hyperintense areas.

Patients and methods: Three patients of varying age and clinical symptomatology diagnosed with metachromatic leukodystrophy (MLD) had remarkably similar MRI appearances. A "tigroid" or "leopard-skin" appearance was demonstrated within deep white matter in each case.

Objective: Metachromatic Leukodystrophy (MLD) is a rare disorder leading to demyelination and neurological impairment. A natural history study within the German leukodystrophy network analyzed MRI changes with respect to the clinical course.

2011年6月23日 · Metachromatic Leukodystrophy (MLD) is a rare disorder leading to demyelination and neurological impairment. A natural history study within the German leukodystrophy network analyzed MRI changes with respect to the clinical course. 113 MR images of 68 patients (33 late-infantile, 35 juvenile) were …