A 46 year old woman had a relapsing-remitting course of hemiparesis, disorientation, paraparesis and seizures, followed by progressive dementia, spasticity and ataxia. Computed tomography at onset showed a parietotemporal hypodense area with diffuse mottled enhancement obliterating the lateral ventricle. Subsequent scans demonstrated symmetric periventricular non-enhancing hypodensities, progre...

Two children with metachromatic leukodystrophy underwent bone marrow transplantation. In both patients MR subsequently showed, first, white matter changes, then later, lack of change as the patients stabilized clinically.

Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has significant impact given implications for neurodegenerative deterioration patient. Currently, there no treatment available reverses development characteristic and systemic symptoms. Objective. Carry out an updated bibliographic search on most critical advances in diagnosis LDM. A retrospective topic review ...

Certain progressive cerebral diseases can present with emotional and behavioural disorders. The juvenile form of metachromatic leucodystrophy is one of these. The histories of two children with this condition are given to demonstrate the insidious form of onset.

Herein the case of a 10-month-old boy with metachromatic leukodystrophy is reported. Diffusion MR imaging performed with an echo-planar trace sequence revealed a cytotoxic edema-like pattern (high signal intensity on b = 1000 s/mm(2) images and low apparent diffusion coefficient values) in the affected white matter in the absence of an ischemic condition. This finding was unchanged at a 6-month...

Arylsulfatase A polypeptides were examined in cultured fibroblasts from a patient with juvenile metachromatic leukodystrophy and three patients with the adult form of the disease, with the aid of metabolic labeling and immunoprecipitation. The mutant cells were severely deficient in the arylsulfatase polypeptides. The apparent rate of synthesis, however, as estimated from the secretion of polyp...

Metachromatic leukodystrophy is a rarely occurring neurodegenerative metabolic disorder with an incidence of 1-9 individuals out of 1,000,000. We present a similar case in an eighteen month old child which was extremely challenging to diagnose. Clinical symptoms suggested motor regression and developmental delay which gave rise to suspicion of a neurodegenerative disorder. An MRI scan of the br...