1/41. Subacute central nervous system degeneration in a child: an unusual manifestation of ifosfamide intoxication.A 5-year-old child with desmoplastic small round-cell tumor was treated with a protocol of very-high-dose, short-term chemotherapy, containing HD-CAV (cyclophosphamide, doxorubicin, vincristine, and mesna), ifosfamide, and etoposide. Two days after the initiation of ifosfamide, he exhibited new-onset lethal encephalopathy manifested by subacutely progressive cerebellar and then temporal and frontocortical degeneration leading to a vegetative state and eventually to death. A full work-up, including brain biopsy, was negative, excluding infections and metabolic or vascular causes. ifosfamide is known to be capable of causing acute encephalopathy that can be severe but is generally reversible. This child showed a very atypical progressive, lethal course of ifosfamide toxicity. The possibility of this complication should be considered when high-dose ifosfamide treatment is planned for children.- - - - - - - - - - ranking = 1keywords = encephalopathy (Clic here for more details about this article) |
2/41. Asymmetrical temporal lobe atrophy with massive neuronal inclusions in multiple system atrophy.This report concerns a rare association of asymmetrical temporal lobe atrophy with multiple system atrophy (MSA). A 53-year-old Japanese woman developed cerebellar ataxia and parkinsonism and was diagnosed as olivopontocerebellar atrophy (OPCA). This patient showed forgetfulness and subsequent disorientation even in the early stage of the disease. She fell into a decorticate state at the age of 64, and died a year later. The autopsy showed MSA with asymmetrical atrophy of temporal lobes, intraneuronal globular inclusions mostly confined to the hippocampus, amygdaloid nucleus, and most abundant in the granule cells in the dentate fascia. These inclusions were intensely argyrophilic and expressed marked immunoreactivity to ubiquitin, but not to neurofilament (NF), tau and paired helical filaments (PHF). Ultrastructurally, they were composed of scattered short filamentous structures of 15 to 30 nm in diameter, ribosome-like granules, mitochondria and lipofuscin. The lack of immunoreactivity against tau, NF and PHF suggests that the inclusions are distinct from Pick bodies. To our knowledge, MSA in association with asymmetrical temporal lobe atrophy with the present neuronal inclusions has not been reported. This case is distinct from MSA combined with atypical Pick's disease in the distribution and immunohistochemical properties of neuronal inclusions, and may present a new variant of MSA since the neuronal inclusions are similar, in many respects, to those of neuronal inclusions reported in MSA. Globular inclusions are also discussed in variants of Pick's disease, amyotrophic lateral sclerosis and Alzheimer's disease.- - - - - - - - - - ranking = 0.017384331209319keywords = variant (Clic here for more details about this article) |
3/41. The auditory pathology of anoxia.A case of anoxic encephalopathy is reported, with study on a whole-auditory-pathways basis, and the method of processing tissues is outlined. Pathologic changes are found throughout the central part of the auditory pathway. The importance of including the superior ventral cochlear nucleus (SVCN) with cochlear structures in correlating findings with audiometric data is supported. The previously advanced tonotopic frequency pattern, with zonal vulnerability, of the spheroid cells of SVCN is supported.- - - - - - - - - - ranking = 0.5keywords = encephalopathy (Clic here for more details about this article) |
4/41. Detection of acute cytotoxic changes in progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome) using diffusion-weighted MRI and MR spectroscopy.Alpers-Huttenlocher syndrome (AHS) is a rare mitochondrial disorder of childhood onset that is characterized by progressive encephalopathy and hepatopathy. MRI studies are rare and have not added substantial information to the pathogenesis of the encephalopathy. diffusion-weighted MRI (DWI) and MR spectroscopy (MRS) were used in a patient with AHS during acute clinical deterioration and after improvement. DWI detected signal hyperintensity in several brain areas not restricted to any vascular territory. MRS revealed an unequivocal lactate peak and a reduced N-acetyl-aspartate-creatinine (NAA/Crea) ratio. DWI signal hyperintensity was correlated with neurologic symptoms and decreased after clinical improvement. Potentially reversible neuronal cytotoxic edema resulting from acute impairment of mitochondrial function is strongly suggested to be an important pathogenetic mechanism in AHS encephalopathy.- - - - - - - - - - ranking = 1.5keywords = encephalopathy (Clic here for more details about this article) |
5/41. Clinico-pathological study of a case of familial parkinsonism with striatal degeneration.The clinico-pathological study of a new type of familial parkinsonism with striatal degeneration is reported. The inheritance mode was autosomal recessive, and three out of four offspring of married cousins developed parkinsonism in their early adulthood. Their clinical signs were rigidity, bradykinesia, postural instability and dysarthria. These symptoms were slowly progressive and responsive to levodopa therapy to a variable degree. On cerebral magnetic resonance imaging, T2 and proton density-weighted images showed hyperintensity in the bilateral putamina. The neuropathological study of one case revealed atrophy of the bilateral putamina and caudate nuclei, and a severe neuronal loss and gliosis in the putamina. Patchy mosaicism of normal and degenerated tissue was observed in the putamina. A similar mode of the degeneration was mildly seen in the caudate nuclei. The substantia nigra showed atrophy of the pars reticulata, and mild to moderate neuronal loss of the pars compacta with rostral dominance, but no lewy bodies were observed. These neuropathological findings differed from those of Parkinson's disease or juvenile parkinsonism, but mimic to those of X-linked dystonia parkinsonism (Lubag). It seems that this familial bilateral striatal degeneration is a new variant of familial parkinsonism.- - - - - - - - - - ranking = 0.0086921656046593keywords = variant (Clic here for more details about this article) |
6/41. Covert person recognition: its fadeout in a case of temporal lobe degeneration.Covert person recognition was investigated longitudinally over a three-year period in a patient suffering from "Crossmodal Familiar Person Agnosia", possibly due to a fronto-temporal dementia in its right temporal variant (Gentileschi et al., 2001). The progressive neuronal degeneration in the cortical regions critical for face recognition (viz., right infero-temporal areas) presented us with the opportunity to check Burton et al.'s (1991) and Farah et al.'s (1993) hypothesis on the dissociation between overt and covert face recognition in a neuropsychological condition which, however, is neurologically and cognitively different from that of focal "associative prosopagnosia". Covert person recognition starting from overtly unrecognised faces was assessed by means of learning tasks of face/name association involving celebrities. It was assumed that some unconsciously spared information would selectively enhance the relearning rates when famous faces were paired with their true names. In fact, the true-name advantage (i.e., selective saving for experimental relearning of true name pairings) reached significance at first assessment, carried out five years from clinical onset. Effect faded away two and three years later on, thus abolishing the overt/covert dissociation in face recognition. These findings support Burton et al.'s (1991) and Farah et al.'s (1993) hypothesis of covert face recognition as the consequence of partial and incomplete activation of person semantics, due, in the present case, to the impoverishment of Gentileschi et al.'s (2001) "exemplar semantics" storehouse. Moreover, it turned out that covert recognition does not imply a different learning slope, but an overall different level of the learning profile.- - - - - - - - - - ranking = 0.0086921656046593keywords = variant (Clic here for more details about this article) |
7/41. Encephalopathy following measles infection in children with chronic illness.Five patients with an unusual encephalopathy, possible secondary to measles virus infection, are described. Features common to these patients are: an existing chronic disease, neurologic deterioration 2 1/2 to 6 months after a measles infection, and death several weeks later. These events occurred when the chronic disease (e.g. leukemia or neuroblastoma) was in remission. That the measles virus was the causative agent is suggested only by finding in brain and extracranial tissues intracytoplasmic and intranuclear inclusions which contained measleslike particles. Additional clinical features seen in each of the five patients were: seizures, hypertension, and the inappropriate secretion of antidiuretic hormone.- - - - - - - - - - ranking = 0.5keywords = encephalopathy (Clic here for more details about this article) |
8/41. Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).Alpers-Huttenlocher disease (AHD) is a rare encephalopathy of infancy and childhood characterized by myoclonic seizures and progressive neurological deterioration, usually associated with signs and symptoms of liver dysfunction. There is no biological marker of the disease, and ultimate diagnosis still relies on pathological examination. Features of clinical progression and pathological findings suggest AHD to be secondary to a genetically determined disorder of mitochondrial function. We report on four AHD patients and focus on their pathological features in brain, liver and muscle. Liver and muscle biopsy specimens were examined using histochemical markers of the oxidative pathways, probes to immunodetect molecules of the apoptotic cascades and electron microscopy. In liver (but not in muscle) biopsy samples, activated caspases were detected by immunohistochemistry: foci of caspase-9-positive cells were seen in a child affected with chronic, progressive fibrosis. In an 18-year-old boy, who suffered from valproic acid-associated acute hepatitis, caspase-3 cells were clustered among the necrotic foci and the foamy cells. In both patients electron microscopy revealed apoptotic nuclei. Normal muscle biopsy specimens were observed in two children, 2 and 8 years-old respectively; in the 18-year-old patient cytochrome oxidase-negative fibers as well as ultrastructural findings of mitochondrial abnormalities were observed. In no patient was there biochemical evidence of impaired oxidative metabolism. Neuropathological examination of the brains of two patients (13 months and 19 years old, respectively) showed focal distribution of the lesions affecting the telencephalic cortex and, to a lesser extent, subcortical gray nuclei. Along with the necrotizing lesions, characterized by neuronal loss, neuropil microcysts and newly formed vessels, we also observed acutely shrunken neurons and features of apoptotic cell death in the cerebral cortex only. Severe neuronal loss without necrotizing features was observed in the cerebellar cortex. The presence of both anoxic and apoptotic nuclei in brain and liver, the target tissues of the disease, is consistent with the hypothesis that abnormal activation of mitochondrion-related cell death pathways might be involved in the pathogenesis of AHD.- - - - - - - - - - ranking = 0.5keywords = encephalopathy (Clic here for more details about this article) |
9/41. Encephalopathy and neuropathy in end-stage liver disease before and after liver transplantation.The nervous system involvement of 8 patients with end-stage liver disease was evaluated by means of clinical neurological, neuropsychological, neurophysiological and neuroradiological investigation before and 6-12 months after a successful liver transplantation. Preoperatively, all subjects (7 women, 1 man; mean age 40 years, range 30-54 years) exhibited decreased muscle strength and 2 patients manifested clinical signs of polyneuropathy. In neuropsychological tests, slight visuoconstructive apraxia, and disturbances of verbal memory and cognitive function were observed. magnetic resonance imaging (MRI) revealed cerebral lesions in two patients. After transplantation, muscle strength reverted to normal in all patients, polyneuropathy improved and in all but 2 patients recovery of neuropsychological functioning was observed. Clinical signs of encephalopathy had disappeared. All patients were emotionally better adjusted after transplantation. Four subjects showed new, albeit mild changes in neurophysiological and neuropsychological tests postoperatively. We conclude that the majority of neurological impairment disappeared after liver transplantation. We want to stress that evaluation of neurological sequelae of liver transplantation needs to be based on assessments both before and after liver transplantation.- - - - - - - - - - ranking = 0.5keywords = encephalopathy (Clic here for more details about this article) |
10/41. Slowly progressive pure dysgraphia with late apraxia of speech: a further variant of the focal cerebral degeneration.We report a longitudinal neuropsychological investigation of a patient with slowly progressive pure dysgraphia. Cognitive analysis of writing errors suggested a selective impairment of the graphemic buffer. After about seven years, the patient developed an apraxia of speech. No other linguistic or generalized cognitive impairment occurred subsequently, so that, twelve years after the beginning of the disease, the patient showed complete independence in daily life and still remained professionally active. functional neuroimaging revealed hypoperfusion confined to left fronto-temporal lobe. This well-recognizable syndrome does not fit any of the cases described previously in the literature. This report therefore, adds another variant to heterogeneous clinical spectrum of focal neurodegenerative disorders, further suggesting the opportunity of their distinction from pathological processes leading to dementia.- - - - - - - - - - ranking = 0.043460828023297keywords = variant (Clic here for more details about this article) |
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