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 ...

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...

Imaging abnormalities of the splenium of the corpus callosum (SCC) are uncommon but have been described in various clinical conditions such as Marchiafava-Bignami disease, trauma, infectious diseases, acute disseminated encephalomyelitis, epilepsy, altitude sickness, hypoglycaemia, electrolyte abnormalities, leukodystrophy, and infarction, and following radiation therapy and chemotherapy. 2 We ...

Investigators from Children's National Health System Washington, DC, USA: Harvard University, Boston, USA; Leeds Teaching Hospitals, UK; and other international centers review a series of patients with MRIs selected from IRB-approved leukodystrophy biorepositories to identify MRI patterns for recognition of early-onset Aicardi-Goutieres (A-G) syndrome and scored for a panel of radiologic predic...

A 2.5 year old girl with metachromatic leukodystrophy presented with acute respiratory distress and was initially wrongly diagnosed with pneumothorax. Barium meal showed bowel loops in the left hemithorax, which prompted surgical intervention; spontaneous rupture of the diaphragm was diagnosed at surgery.

ClC-2 is a broadly distributed chloride channel with an enigmatic neurophysiological function. In this issue of Neuron, Jeworutzki et al. (2012) use a biochemical approach to identify GlialCAM, a protein with a defined link to leukodystrophy, as a ClC-2 auxiliary subunit.

leukodystrophies are metabolic disorders of the brain, spinal cord and, in part, of the peripheral nerves that lead to degeneration of the white matter (myelin) of the brain. since mainly nerve tracts, which control voluntary movement, are embedded in myelin, patients with leukodystrophy suffer from progressive movement disorders and later also from mental deterioration. through a survey, we ca...