And Mitochondrial Leukoencephalopathies

Pyruvate Dehydrogenase Deficiency Mri

Leigh syndrome, also called subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder mainly occurring in infancy and childhood. The disease often starts before 1 year of age and leads to death in months or years. Juvenile and adult-onset forms have also been described. In most cases the disease has an autosomal recessive inheritance in some cases inheritance is maternal or X-linked. Both sexes are affected, but among infants there is a 3 2 male predominance. The course can be...

Magnetic Resonance Imaging

Nigra Thalamus

CT scan findings include hypodensity of the cerebral white matter and globus pallidus. Mildly increased density of the thalami has been reported. The MR images obtained in a fucosidosis patient show symmetrical white matter abnormalities. In some patients, the white matter signal behavior on Tr and T2-weighted images is suggestive of moderate hypomyelination the white matter is mildly hyperin-tense on both Tr and T2-weighted images Fig. 12.1 . In other patients, however, the white matter has in...

Mitochondrial Encephalopathy with Lactic Acidosis and Strokelike Episodes

Hashimoto Encephalopathy Mri

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes constitute the MELAS acronym. The disease shows maternal inheritance with considerable intrafamilial variation in expression of the disease. The age at onset varies between 3 months and 40 years, but in most cases first signs and symptoms occur before adulthood. Early development is normal in the majority of patients. The first manifestations of disease usually belong to the group of general features of...

Globoid Cell Leukodystrophy Krabbe Disease

Krabbe Disease Pictures

Globoid cell leukodystrophy GLD , also known as Krabbe disease,is a progressive white matter disorder with autosomal recessive inheritance. A number of clinical types can be distinguished,which differ in age of onset and in the rate of clinical deterioration. The early infantile or classic type is the most common. Its incidence is estimated at 1-2 in 100 000. The other types are congenital,late-infantile, juvenile, and adolescent-adult. As a rule only one variant of GLD occurs within one...