1/8. Conceptual dilemmas in evaluating individuals with severely impaired consciousness.States of severely impaired consciousness (SIC) are characterized by cognitive and motor limitations. This case report describes a 45-year-old female with impaired consciousness who began to 'walk'. She initially presented to the hospital unresponsive and was subsequently diagnosed with metabolic encephalopathy due to severe hypoglycaemia. Traditional indices of consciousness indicated a low level of responsiveness; however, during physical therapy, she displayed reciprocal walking movements when lifted to a standing position by two therapists. Despite her ability to walk increased distances during and after neurorehabilitation, she was unable to consistently demonstrate responses indicative of higher levels of consciousness. This case illustrates the challenge of rating patients with limited behavioural repertoire using established measures of impaired consciousness.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/8. Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes.We describe a cerebral MRI study of two brothers with mucopolysaccharidosis type I. They are of similar physical appearance, but the younger is severely mentally retarded while the elder is of normal intelligence. MRI shows characteristic abnormalities in the CNS, but it is not yet possible to establish a correlation between them and the mental retardation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/8. Neuronal and vascular disorders of the brain and spinal cord in Menkes kinky hair disease.A 3 2/12-year-old boy had recurrent seizures, chronic respiratory infection, and delayed physical and mental development. He also had low plasma copper content typical of Menkes syndrome. autopsy showed marked neuronal loss and gliosis in most areas of the cerebral and cerebellar cortices, midbrain, pons, and medulla. The spinal cord showed severe demyelination in both ascending (spinocerebellar) and descending (lateral corticospinal) tracts from the cervical to the sacral level. In addition to these neuronal lesions, both the meningeal and parenchymal arterial and venous branches were remarkably dilated in the brain and spinal cord. Our previous study of this case showed abnormal perivascular innervation and abnormal axonal swelling of the postganglionic adrenergic fibers elsewhere in the body. The metabolic disorder caused by copper deficiency induces severe neuronal degeneration that is apparently exaggerated by extensive and progressive vascular abnormality.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/8. Cardiomyopathy associated with Leigh's disease.Clinical and postmortem findings in a female infant, suffering from Leigh's disease and cardiomegaly are described. The cardiac enlargement was due to symmetrical thickening of both ventricular walls and the septum. On light microscopy a widespread fibre disarray with a slight predilection for the ventricular septum was observed. Ultrastructural changes included an extreme reduction in the number of myofibrils and an excess of mitochondria. Abnormalities of the mitochondrial structure with tubular and myelinic transformation of the cristae suggested that a mitochondriopathy is responsible for the cardiomegaly in Leigh's disease.- - - - - - - - - - ranking = 5.1997819100092keywords = suffering (Clic here for more details about this article) |
5/8. life-span and menkes kinky hair syndrome: report of a 13-year course of this disease.The life-span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects are summed up.- - - - - - - - - - ranking = 5.1997819100092keywords = suffering (Clic here for more details about this article) |
6/8. Menkes' disease and swayback. A comparative study of two copper deficiency syndromes.The neuropathological findings in two siblings with Menkes' disease were compared with representative material obtained from lambs suffering from swayback (enzootic ataxia). The aim of the study was to demonstrate the similarity of lesions in a genetic and a nutritional form of copper deficiency in support of the view that all lesions in Menkes' disease could be ascribed to simple hypocupraemia. All lesions of Menkes' disease were shown to have their counterpart in swayback, with exception of the abnormal arborisations of the Purkinje cell dendrites. These have often been interpreted as malformations and cited in evidence of the prenatal origin of the cerebral lesions. They are, however, non-specific and similar lesions have been reported in conditions arising in later life. While there is abundant collateral evidence of disturbed copper metabolism in utero, the problem of the prenatal versus postnatal origin of cerebral damage remains unresolved.- - - - - - - - - - ranking = 5.1997819100092keywords = suffering (Clic here for more details about this article) |
7/8. Whipple's disease and the central nervous system. A case report and a review of the literature.A 65-year-old man was suffering from recurrent manic psychosis accompanied by weight loss. He also had a history of pleural effusion, aspecific migratory non-deforming seronegative polyarthritis, sensorineural hearing loss and semicircular canal paresis. Whipple's disease (WD) had been diagnosed at the age of 63 years. On admission to hospital) he had weight loss, diarrhoea in combination with an organic brain syndrome, hemiparesis and ophthalmoplegia, including internuclear ophthalmoplegia (INO). A clinical diagnosis of central nervous system (CNS) WD was made. MRI revealed a thalamus lesion that halved in size during sulfamethoxazole-trimethoprim treatment. The organic brain syndrome and ophthalmoplegia diminished also, as did the cerebrospinal fluid (CSF) IgG level. A review of CNS WD is presented and implications for treatment are discussed.- - - - - - - - - - ranking = 5.1997819100092keywords = suffering (Clic here for more details about this article) |
8/8. cerebrospinal fluid investigations for neurometabolic disorders.Careful clinical delineation and advances in analytical methods have opened new possibilities for the detection of inherited neurometabolic disorders, some of which require specific CSF analyses for diagnosis. Although patients suffering from these disorders have recognizable phenotypes, there are strong indications that remain many undiagnosed, leading to a continuation of futile diagnostic searches and, for most disorders, withholding of available rational therapy. As there is still widespread uncertainty about when to perform specialist CSF investigations, it is the aim of this paper to define the place for CSF investigations in the diagnostic work-up of a child with an encephalopathy of unknown origin. Most neurometabolic disorders can be identified through serum, plasma and urine analyses in conjunction with neuroradiological investigations. Whenever CSF investigations are performed, the analysis should include quantitative determination of lactate, pyruvate and amino acids, the latter by methods especially suited for CSF, in addition to cells, glucose, protein, immunoglobulin classes, specific immunoglobulins, and an evaluation of the blood-brain barrier. If the disease course is non-progressive or if extracerebral symptoms are present in addition to an encephalopathy, e.g. endocrinological, hepatic, muscular or renal symptoms, investigations of metabolites in CSF over and above lactate, pyruvate and amino acids are generally noncontributary. Specific CSF investigations, which are discussed in detail, test metabolic pathways of brain metabolism, especially of neurotransmission. For a successful diagnosis of these defects, analyses must be planned individually, before CSF samples are taken, based on family history, clinical findings and disease course. Different determinations require different logistics from taking of the sample to shipment. One indication for specialized CSF analyses including biogenic monoamines and GABA is severe neonatal/infantile epileptic encephalopathy. In addition to a therapeutic trial of B6, folinic acid should be tried empirically for two to three days as the emerging syndrome of folinic acid responsive seizures appears to be the underlying cause in a sizable proportion of patients. In later infancy and childhood, defects in the metabolism of the biogenic monoamines may be suspected in patients with (fluctuating) extrapyramidal disorders, in particular Parkinsonism dystonia or more general "athetoid cerebral palsy", and vegetative disturbances. A severe epileptic encephalopathy and progressive mental retardation may be present. neuroimaging findings do not show specific lesions. Determinations of folates and organic acids in CSF appear at present only warrantable individually in special constellations, e.g. classical clinical findings and disease course suggestive of glutaryl-coa dehydrogenase deficiency with repeated negative quantitative analyses of organic acids in urine. The diagnosis of disorders, which require specific analyses of CSF, can only be achieved by conscious diagnostic decisions based on a concept of the respective disease and repeated scrupolous expert clinical evaluation aided by an array of investigations in blood and urine as well as neuroimaging findings. No single one investigation in CSF can serve as a "selective screening" test. A growing awareness of these disorders is needed and should lead to increased and earlier diagnosis of patients through fewer rather than more lumbar punctures.- - - - - - - - - - ranking = 5.1997819100092keywords = suffering (Clic here for more details about this article) |