1/7. D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy.D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. cardiomegaly with aortic insufficiency was diagnosed. magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/7. CT, MRI, and autopsy findings in brain of a patient with MELAS.brain autopsy findings in a 14-year-old patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes were compared with those of computed tomography (CT) and magnetic resonance imaging (MRI). Pathologic examinations revealed extensive laminar necrosis bordered by gliotic tissues throughout the cerebral cortices. Moderate losses of myelin and fibrous gliosis were also observed in the subcortical and deep white matter. These lesions were demonstrated as low-density areas on CT and as high-signal areas on T2-weighted MRI. MRI revealed the lesions more distinctively and precisely than CT. Neither CT nor MRI could reveal abnormalities in the basal ganglia, including vascular proliferation and calcium deposits in the blood vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/7. Involvement of choroid plexus in mitochondrial encephalomyopathy (MELAS).Morphological study of the choroid plexuses of two patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) revealed an enormously increased number of mitochondria with structural abnormalities in almost all of the choroidal epithelial cells. The majority of the cells also showed loss of microvilli and collapsed or attenuated apical cytoplasmic processes with increased electron density and lysosome-like dense bodies. The blood vessels of the choroid plexus showed the features of mitochondrial angiopathy previously described in the pial arteries of the same patients. These findings are interpreted as the morphological expression of a primary biochemical defect of the mitochondrial function in the choroid plexus, and as the probable explanation for increased CSF lactate and pyruvate levels in this disease.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/7. An unusual form of motor neuron disease following a cat bite.A case of motor neuron disease with clinical and pathological resemblance to amyotrophic lateral sclerosis (ALS) in a woman who was severely bitten on the ankle by a cat is described. Weakness first appeared at the ankles and relentlessly advanced proximally, terminating in death from pulmonary failure in a year. A number of unusual features that are uncharacteristic of ALS were found that included a markedly elevated antinuclear antibody titre in the serum and the presence of prominent oligoclonal bands in the cerebrospinal fluid. The spinal cord showed loss of anterior horn cells and pyramidal degeneration that are characteristic of ALS, but an extraordinary finding was the presence of transmural granulomatous inflammation of numerous small and medium sized vessels, especially veins, in the subarachnoid space around the cord. There were also inflammatory changes in the brainstem and spinal cord consisting of microglial and astrocytic nodules and perivenous cuffing by mononuclear cells. Ill-defined hyaline eosinophilic cytoplasmic inclusions were seen in some remaining anterior horn cells. No viral particles were found by electron microscopy despite an extensive search. Virological studies were inconclusive but there is reason to believe that this patient's illness was caused by an as yet unidentified virus.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/7. Small vessel vasculitis presenting as neurological disorder.Three patients with skin or muscle biopsy evidence of small vessel vasculitis presented with neurological symptoms: (1) frequent transient ischaemic attacks, (2) myalgia with encephalopathy, and (3) myalgia with marked weakness. The diagnosis of small vessel vasculitis needs consideration especially if presentation with polyneuropathy or cutaneous involvement is associated with elevation of ESR or serum immunoglobulins. Neurological illness may be a more common presentation of small vessel vasculitis than previously recognised.- - - - - - - - - - ranking = 7keywords = vessel (Clic here for more details about this article) |
6/7. Common origin of rods, cores, miniature cores, and focal loss of cross-striations.Twelve patients suffering from congenital neuromuscular disorders showed at least two of the following structural changes in their muscle biopsy specimens: rods, cores, miniature cores (M lesions), and focal loss of cross-strians (F lesions). There appeared to be no essential differences between M and F lesions except for the presence of vesicular nuclei in and around the latter. A striking finding was the presence of adjacent M lesions, F lesions, or both in two or several adjoining muscle fibers. Serial sections often showed a definite relationship of the lesions with blood vessels. The finding of rods cores, and M and F lesions, not only in one biopsy specimen but also in one muscle fiber, raised the intriguing possibility of common pathogenic mechanisms producing these lesions.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
7/7. Neuromuscular and immunochemical abnormalities in an adult man with Kawasaki disease.A 40-year-old black man developed the primary features of Kawasaki disease, along with a pronounced distal motor and sensory neuropathy, abnormal electromyograms, and elevated creatine kinase levels. Results of the biopsy of a distal muscle showed myonecrosis, some type II grouping, immunoglobulin deposition in the sarcolemma, and disordered sarcomeric alignment with dilated T-tubules and terminal cisternae. Immunologic evaluation showed high concentrations of cryoglobulins and circulating immune complexes. It is possible that several manifestations of Kawasaki disease are mediated by immune complex deposition in vessels and tissues.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |