1/12. GM1 gangliosidosis type 2 in two siblings.A sister and brother, now aged 7 and 9 years, presented with developmental arrest, gait disturbance, dementia, and a progressive myoclonic epilepsy syndrome with hyperacusis in the second year of life. Then, spastic quadriparesis led to a decerebrate state. In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient beta-galactosidase activity but normal glucosidase, hexosaminidase, and neuraminidase activity on lysosomal enzyme assays constitutes the clinical-pathologic-biochemical profile of GM1 gangliosidosis type 2. This is a rare, late infantile onset, progressive gray-matter disease in which beta-galactosidase deficiency is largely localized to the brain, though it can be demonstrated in leukocytes and cultured skin fibroblasts. It must be distinguished from the Jansky-Bielschowsky presentation of neuronal ceroid lipofuscinosis, mitochondrial encephalopathy, lactic acidosis, strokelike episodes (MELAS) and myoclonic epilepsy with ragged-red fibers (MERRF) syndromes, atypical presentations of GM2 gangliosidoses (Tay-Sachs and Sandhoff's diseases), primary sialidosis (neuraminidase deficiency), galactosialidosis, and Alpers' disease.- - - - - - - - - - ranking = 1keywords = dementia (Clic here for more details about this article) |
2/12. Forced mouth opening reaction: a primitive reflex released from cortical inhibition.We report the case of a 6-year-old girl with congenital adrenal hyperplasia, who showed 'forced mouth opening reaction' during the course of acute encephalopathy due to adrenal crisis. When an object was moved towards her mouth, or when the corner of her mouth was stroked with a tongue depressor, she would immediately open her mouth fully and hold it open. This reaction appeared transiently during the course of her illness in association with other frontal release signs including the rooting, groping and palmomental reflexes. magnetic resonance imaging showed bilateral widespread lesions involving the gray and white matters in the frontal lobes, and less severe lesions in the temporal and parietal areas. We propose that this unique reaction is a sign of a release phenomenon, and represents the emergence of primitive reflexes in the absence of cortical inhibition in some types of encephalopathies.- - - - - - - - - - ranking = 162.56091851042keywords = encephalopathies (Clic here for more details about this article) |
3/12. Cardiac encephalopathy and congestive heart failure: a hypothesis about the relationship.Many patients with congestive heart failure develop neurologic dysfunction. This may take the form of a cardiac encephalopathy that shares clinical features with other metabolic encephalopathies. The causes are multiple. There is a particular, previously unreported, syndrome that occasionally develops in some patients with congestive heart failure that resembles the findings in patients with normal pressure hydrocephalus. This syndrome is characterized by apathy and abulia with preserved alertness; it is caused by fluid retention within the cranial cavity. The syndrome may also develop in patients with other conditions that cause anasarca, e.g., severe liver or kidney disease or hypoalbuminemia. Because patients with these conditions are often quite ill, it has been difficult to verify the pathophysiologic aspects of the syndrome so that its mechanism must remain a hypothesis that awaits more definitive study in a series of patients. I have not seen this syndrome discussed in any cardiology or neurology texts or reports, and it seems to be completely unknown to cardiologists and neurologists. I have recognized about one patient per year with this syndrome.- - - - - - - - - - ranking = 162.56091851042keywords = encephalopathies (Clic here for more details about this article) |
4/12. The neurological complications of cardiac transplantation.review of the neurological complications encountered in 83 patients who received cardiac homografts over a seven-year period leads to the following conclusions: (1) Neurological disorders are common in transplant recipients, occurring in over 50 per cent of patients. (2) infection was the single most frequent cause of the neurological dysfunction, being responsible for one-third of all CNS complications. (3) The infective organisms were typically those considered to be usually of low pathogenicity: fungi, viruses, protozoa and an uncommon bacterial strain. (4) Other clinical neurological syndromes were related to vascular lesions, often apparently from cerebral ischaemia or infarction occurring during the surgical procedure, metabolic encephalopathies, cerebral microglioma, acute psychotic episodes and back pain from vertebral compression fractures. (5) The infectious complications and probably the development of neoplasms de novo, are related to immunosuppressive therapy which impairs virtually all host defence mechanisms and alters the nature of the host's response to infective agents or other foreign antigens. (6) Because neurological symptoms and signs were usually those of behavioural changes or deterioration in intellectual performance, the neurological examination was often of little value in diagnosing the nature or even the anatomical site of the neuropathological process. (7) The possibility of an infectious origin of the neurological manifestations must be aggressively pursued even in the absence of fever and a significantly abnormal spinal fluid examination. The diagnostic error made most frequently was to ascribe neurological symptoms erroneously to metabolic disturbances or to "intensive care unit psychosis" when they were in fact due to unrecognized CNS infection. (8) maintenance of mean cardiopulmonary bypass pressures above 70 mmHg, particularly in patients with known arteriosclerosis, may reduce operative morbidity. (9) Though increased diagnostic accuracy is possible with routine use of a variety of radiological and laboratory techniques, two further requirements probably must be met before a significant reduction in the frequency of neurological complications will occur: the advent of greater immunospecificity in suppressing rejection of the grafted organ while preserving defences against infection; and a more effective armamentarium of antiviral and antifungal drugs.- - - - - - - - - - ranking = 162.56091851042keywords = encephalopathies (Clic here for more details about this article) |
5/12. magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis.This reports a 40 year old man with cerebrotendinous xanthomatosis who had bilateral cataracts, enlarged Achilles tendons, progressive dementia, gait disturbance and peripheral neuropathy. electroencephalography, electromyography, and magnetic resonance imaging (MRI) of the brain and spine were performed. magnetic resonance imaging revealed cerebral, cerebellar and cervical cord atrophy and white matter involvement in the cerebrum and cerebellum correlating well with the clinical findings. To date there has been one previous report of MRI of the brain in cerebrotendinous xanthomatosis and none of the spinal cord.- - - - - - - - - - ranking = 1keywords = dementia (Clic here for more details about this article) |
6/12. Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.- - - - - - - - - - ranking = 1keywords = dementia (Clic here for more details about this article) |
7/12. Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.A six-month-old girl with chronic lactic acidosis and neurological deterioration is described, who underwent a sudden severe decompensation during her initial neurological investigations. She responded dramatically to biotin therapy. The diagnosis of late onset multiple carboxylase deficiency due to biotinidase deficiency was confirmed. This entity should be considered in the differential diagnosis of hyperlactacidemic encephalopathies.- - - - - - - - - - ranking = 162.56091851042keywords = encephalopathies (Clic here for more details about this article) |
8/12. adult polysaccharidosis. Clinicopathological, ultrastructural, and biochemical features.An abnormal polysaccharide in the form of cytoplasmic spheroids was found in the nervous system and systemic organs of a man with a progressive neurological disorder characterized by onset at 47 years of age, severe weakness, sensory loss, and dementia. Results of biochemical analysis showed a marked increase in brain and heart polysaccharide that was resistant to digestion by a mixture of glucosidases and that exhibited an iodine-complex spectrum higher than that of normal glyocgen. Results of histochemical studies were consistent with the results of biochemical analysis and further defined the branching characteristics of the stored polysaccharide. Electron microscopy showed the cytoplasmic location of the spheroids, which were granular and filamentous.- - - - - - - - - - ranking = 1keywords = dementia (Clic here for more details about this article) |
9/12. 3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.Choreoathetosis, spastic parapareses, dementia and optic atrophy were the main clinical features in a sibship with progressive encephalopathy of late onset. The urine contained constantly elevated amounts of 3-methylglutaric and 3-methylglutaconic acids. The identity of these metabolites was confirmed by synthesis and mass spectrometry. On leucine loading, the excretion of the metabolites was elevated.- - - - - - - - - - ranking = 1keywords = dementia (Clic here for more details about this article) |
10/12. Cerebral ocular Whipple's disease: a 62-year odyssey from death to diagnosis.A 47-year-old white man with dementia, supranuclear ophthalmoplegia, and myoclonic ocular and facial jerks died in 1931. The case report in 1936 by Ford and Walsh diagnosed encephalitis. In 1993, we made a clinical diagnosis of Whipple's disease on the basis of the 1936 publication. We restudied the pathologic material and found, in addition to extensive encephalitis, PAS-positive material in only the eye, brain, spinal cord, and pituitary. Electron microscopy demonstrated free and intracytoplasmic microorganisms in the eye and brain. We review the history of cerebral ocular Whipple's disease and the implications from this case, which occurred before the development of antibiotics.- - - - - - - - - - ranking = 1keywords = dementia (Clic here for more details about this article) |
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