MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited.

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (previously known as Navajo neurohepatopathy) was discovered in children in the Four Corner's region of New Mexico approximately 40 years ago. This disease is associated with a single missense mutation in exon 2 in the gene. The syndrome has now been recognized world-wide.

The histopathologic associates of neurometabolite abnormalities in fatal neuropsychiatric systemic lupus erythematosus.

Objective: To determine the histopathologic basis of altered brain neurometabolites in neuropsychiatric systemic lupus erythematosus (NPSLE).

Methods: Brain neurometabolite concentrations in a 20-voxel area of the brain were determined premortem by magnetic resonance spectroscopy (MRS) in 7 individuals with NPSLE. Absolute concentrations of neurometabolite for N-acetylaspartate (NAA), choline, creatine, and lactate were measured.

Magnetic resonance imaging and brain histopathology in neuropsychiatric systemic lupus erythematosus.

Objective: Magnetic resonance imaging (MRI) often demonstrates brain lesions in neuropsychiatric systemic lupus erythematosus (NPSLE). The present study compared postmortem histopathology with premortem MRI in NPSLE.

Methods: Two hundred subjects with NPSLE were studied prospectively with MRI over a 10-year period during which 22 subjects died.

Amyloid myopathy: characteristic features of a still underdiagnosed disease.

A 62-year-old man with progressive proximal weakness underwent extensive evaluation including muscle biopsy without a clear diagnosis being established. A repeat muscle biopsy including Congo red-stained sections revealed infiltration of blood-vessel walls and endomysium with amyloid protein, as well as an unusual pattern of pathologic changes to muscle fibers. From a review of 79 cases of amyloid myopathy reported in the English-language literature, the characteristic features of this disorder are described.