1/30. MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study.This report concerns an autopsy case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with unusual neuropathological findings. The patient was a Japanese woman who was 21 years old at the time of death. Her mother is a patient with genetically confirmed MELAS. Her clinical manifestations included convulsions and lactic acidosis in the latter half of the first decade of life, followed by deafness, dementia, muscle weakness in the lower extremities, slight ataxia in the upper and lower extremities, and diabetes mellitus. Muscle biopsy revealed ragged-red fibers, and genetic study showed a point mutation at nucleotide pair 3243 in mitochondrial dna. She died of lactic acidosis. In the clinical course, she did not develop stroke-like episodes. The neuropathological examination revealed not only minute to small necrotic foci in the cerebral cortex, amygdala, hippocampus, and cerebellum, but also prominent white matter gliosis in the central nervous system and cerebellar cortical degeneration of granular cell type. Our neuropathological findings, including prominent white matter gliosis of the central nervous system and cerebellar cortical degeneration of granular cell type, may indicate morphologically widespread cellular dysfunction, not restricted to either neuronal or vascular derangement, in the brain pathology of MELAS.- - - - - - - - - - ranking = 1keywords = encephalopathy (Clic here for more details about this article) |
2/30. A case of leukoencephalopathy with vanishing white matter.A 6-year old Turkish boy with a recently defined entity: "leukoencephalopathy with vanishing white matter" is described. He was born to consanguinous parents. His psychomotor development was normal till he first presented with fever and generalized tonic-clonic seizures at the age of 2.5, followed by rapid motor and mental deterioration. Decerebrate posture and marked spasticity subsequently developed. The initial MRI examination showed diffuse involvement of white matter, including subcortical U-fibers, with signal intensity parallel to CSF on all sequences. The white matter appeared swollen. The ventricles were slightly enlarged and there was cavum septi pellucidi et vergae. The posterior crus of the internal capsule, external and extreme capsules were affected. Cerebellar hemispheres and vermis showed atrophy. The involvement pattern of brainstem was noteworthy in that pontine tegmentum and cruri cerebri were affected. Follow-up MRI obtained after three years did not show any interval change. brain biopsy showed thinned cortex with relatively preserved cortical layering and neuronal structure. There was rarefaction of the white matter with cystic degeneration. Fibrillary gliosis and increased number of oligodendroglial cells were observed within the cerebral white matter.- - - - - - - - - - ranking = 5keywords = encephalopathy (Clic here for more details about this article) |
3/30. Rasmussen's syndrome in a 54 year old female: more support for an adult variant.Rasmussen's syndrome, a syndrome of chronic focal encephalitis, is usually considered to be a disease of childhood. Typical features include intractable focal seizures and progressive unilateral neurological deficits with radiological evidence of focal cortical atrophy. This report documents the case of the oldest patient yet described in the literature with Rasmussen's syndrome. magnetic resonance imaging revealed gadolinium enhancing tissue, not previously described in this condition.- - - - - - - - - - ranking = 0.086502433854757keywords = variant (Clic here for more details about this article) |
4/30. Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis.Widespread cerebral atrophy and basal ganglia involvement are highly suggestive imaging features of the variants of late infantile type neuronal ceroid-lipofuscinosis. In the presence of clinical findings indicative of neuronal ceroid-lipofuscinosis, neuroimaging procedures are highly recommended to differentiate the variants from classic late infantile neuronal ceroid-lipofuscinosis. The clinical features and follow-up magnetic resonance imaging studies in a patient with the Costa Rican variant of late infantile neuronal ceroid-lipofuscinosis is presented. These procedures were of the utmost importance to observe the progression of the neurologic ailment and the extent of the cerebral and cerebellar abnormalities.- - - - - - - - - - ranking = 0.15137925924582keywords = variant (Clic here for more details about this article) |
5/30. Amyotrophic form of Creutzfeldt-Jakob disease with rapid course in 82-year-old man.The authors present a case of Creutzfeldt-Jakob disease in 82-year-old man. Besides the onset of the disease in the elderly and short survival time (8 weeks), other uncommon clinical and morphological features also characterized our case. An evident amyotrophic syndrome, confirmed in morphological findings, developed soon after the CJD onset. The spongiform change also observed within the white matter of cerebral hemispheres allowed us to diagnose the 'panencephalopathic' form of CJD.- - - - - - - - - - ranking = 82.89948006575keywords = spongiform (Clic here for more details about this article) |
6/30. Neuropathology and binding studies in anti-amphiphysin-associated stiff-person syndrome.The authors report a 71-year-old woman with amphiphysin-associated paraneoplastic stiff-person syndrome, opsoclonus, and encephalopathy. The patient's symptoms temporarily responded to plasmapheresis in parallel with a decline of serum anti-amphiphysin antibody titers. Later, the encephalopathy progressed rapidly and the patient died. Binding studies and the detection of autoantibodies in the patient's CNS as well as the treatment response suggest a pathogenic role of the anti-amphiphysin antibodies.- - - - - - - - - - ranking = 2keywords = encephalopathy (Clic here for more details about this article) |
7/30. Hashimoto's encephalopathy: postmortem findings after fatal status epilepticus.The clinical features of Hashimoto's encephalopathy have been attributed to a cerebral vasculitis, but pathologic material is rarely available. The authors describe an individual with Hashimoto's encephalopathy complicated by fatal status epilepticus. Postmortem examination demonstrated mild perivascular lymphocytic infiltration throughout the brain and leptomeninges plus diffuse gliosis of gray matter in the cortex, basal ganglia, thalami, hippocampi, and, to a lesser extent, the parenchymal white matter.- - - - - - - - - - ranking = 6keywords = encephalopathy (Clic here for more details about this article) |
8/30. Sporadic Creutzfeldt-Jakob disease without dementia at onset: clinical features, laboratory tests and sequential diffusion MRI (in an autopsy-proven case).A rapidly progressing dementia, followed by focal neurological signs, and evidence of periodic sharp wave complexes (PSWC) in the EEG may lead to the clinical suspicion of Creutzfeldt-Jakob disease (CJD). Different clinical variants of CJD have been described in the past, with prominent extrapyramidal or occipital lobe involvement, all included in the sporadic form of CJD (sCJD). Familiar and iatrogenic forms of CJD are also known. More recently a new variant has been described, vCJD, casually linked to bovine spongiform encephalopathy (BSE) and it has attracted increasing attention toward each form of rapidly progressing dementia; likewise the differential diagnosis between sCJD vs. vCJD is not always easy. magnetic resonance imaging (MRI) too seems to have a peculiar role in differentiating sCJD from vCJD, even if the role of MRI in the diagnosis of CJD is still debated. diffusion MRI is expected to play an important role in the clinical setting of CJD, contributing to formulation of an early diagnosis, especially in cases with unusual clinical presentation. In fact, the sensitivity of diffusion MRI is superior to that of conventional MRI (T1, T2, FLAIR) in detecting specific basal ganglia and cortical abnormalities early in the course of CJD and these abnormalities correlate well with areas of the most severe and characteristic neuropathological changes. We describe a case of autopsy-proven sCJD, with an unusual clinical course without dementia as a presenting symptom and discuss the role of diffusion MRI and laboratory tests in making an early diagnosis.- - - - - - - - - - ranking = 83.942731282677keywords = spongiform, encephalopathy, variant (Clic here for more details about this article) |
9/30. A Heidenhain variant of Creutzfeldt-Jakob disease: forensic implication.To investigate whether typical clinical, diagnostic and neuropathological findings can be identified in a patient with a postmortem diagnosis of a Heidenhain variant of Creutzfeldt-Jakob disease (CJD). We report a new case of CJD in a rare variant. A man admitted to hospital with cefalea and vision disorder. Clinical and neurological examination showed headache, vision reduction, psychomotor anxiety and progressive torpor. The patient died 4 h after admission to hospital. The autopsy findings included marked encephalic vascular congestion. Hystoneurology examination showed no macroscopic anomaly. microscopy findings included neuronal loss, gliosis in striate area with arachnoid cells and cerebellum microspongiosis. Creutzfeldt-Jakob disease is a rare neurodegenerative human disorder. The prion hypothesis as an explanatory model is currently favoured by majority of researchers. A disease course described by Heidenhain including the leading symptoms of a visual disorder and rapid progression. This report emphasize the multidisciplinary role (forensic, neurogenetic and neurohistologic) for diagnosis and to standardize a protocol to investigate.- - - - - - - - - - ranking = 0.12975365078214keywords = variant (Clic here for more details about this article) |
10/30. MM2-thalamic-type sporadic Creutzfeldt-Jakob disease with widespread neocortical pathology.We report an autopsy case of MM2-thalamic-type sporadic Creutzfeldt-Jakob disease (sCJD) with widespread cerebral neocortical pathology. Initial symptoms were progressive insomnia and mental disturbance. magnetic resonance imaging revealed no high-signal intensity lesions on diffusion-weighted images and later showed gradually progressive cerebral atrophy. Periodic synchronous discharges and myoclonus were not observed. Upon neuropathologic examination, widespread cerebral neocortical involvement with fine vacuole-type spongiform change was observed. Severe degeneration with almost complete neuronal loss, tissue rarefaction, numerous fat-laden macrophages and hypertrophic astrocytosis of the medial thalamic nucleus was evident. The inferior olivary nucleus showed severe involvement with neuronal loss and hypertrophic astrocytosis. In the cerebellar cortex, moderate depletion of Purkinje neurons was evident, with no spongiform change in the molecular layer and no neuronal loss in the granule cell layer. immunohistochemistry for prion protein (PrP) revealed widespread synaptic-type deposits with some primitive plaque-type deposits in the cerebral neocortex, basal ganglia and cerebellar cortex. PrP deposition was also observed in the brainstem, particularly the tegmentum, substantia nigra and pontine nucleus, and spinal cord, particularly the posterior horn. In the medial thalamus and inferior olivary nucleus, PrP deposition was sparse. Analysis of the PrP gene showed no mutation but did show methionine homozygosity at polymorphic codon 129. Western blot analysis of protease-resistant PrP indicated the presence of type 2 PrP. We believe that this patient suffered from MM2-thalamic-type sCJD (sporadic fatal insomnia) with widespread cerebral neocortical pathology due to prolonged disease duration. The present case showed different patterns of spongiform degeneration and PrP deposition in the cerebral neocortex than those in previously reported MM2-thalamic-type sCJD cases.- - - - - - - - - - ranking = 248.69844019725keywords = spongiform (Clic here for more details about this article) |
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