1/86. Study of systemic lupus erythematosus in temporal bones.Despite some reports of sensorineural hearing loss with systemic lupus erythematosus (SLE), its pathologic correlate has remained unidentified due to the scarcity of human temporal bone studies. We here present findings in 14 temporal bones from 7 patients with SLE, examined histologically and immunohistochemically for pathologic conditions in the cochlea that might relate to their otologic histories. Blue-staining concretions were seen in the stria vascularis of 6 ears. Most of the cases showed a loss of spiral ganglion cells, with various degrees of hair cell loss and atrophy of the stria vascularis. One ear demonstrated formation of fibrous tissue and bone throughout the cochlea, with complete loss of the membranous labyrinth. Cochlear hydrops was found in only 1 ear. These findings in temporal bones from patients with SLE are discussed in relation to autoimmune disease of the inner ear.- - - - - - - - - - ranking = 1keywords = ganglion (Clic here for more details about this article) |
2/86. Pagetoid self-healing Langerhans cell histiocytosis in an infant.We report Langerhans cell (LC) histiocytosis in a male infant who developed numerous papular lesions on the trunk and posterior scalp soon after birth and spontaneously recovered from the disease within 7 months. Histologically S-100-positive cells were detected in the epidermis and papillary dermis, in some lesions mostly in the epidermis. Tumor cells in the epidermis were either clustered, forming nests, or scattered singly in pagetoid fashion. Electron microscopy confirmed the presence of Birbeck granules in these cells. They exhibited many interesting features usually not found in normal LCs, including mitosis, frequent apoptosis, Birbeck granules invaginated in the nucleus, autophagocytosis of Birbeck granules, and active ingestion of extracellular material through Birbeck granules attached to cell membranes. It is suggested that either a strong epidermotropism of tumor cells or a proliferation of the resident LCs of the epidermis is responsible for this intraepidermal growth pattern. Cellular necrosis through very active apoptosis and the superficial nature of the growth might have contributed to the self-healing course in this patient.- - - - - - - - - - ranking = 0.11814534350417keywords = nucleus (Clic here for more details about this article) |
3/86. Histopathologic features of the temporal bone in usher syndrome type I.Temporal bones of 2 patients with Usher syndrome type I were examined using light microscopy. In both patients, findings from histopathologic examination of the cochlea were characterized by degeneration of the organ of corti, which was most marked in the basal turn, atrophy of the stria vascularis, and a decrease in the number of spiral ganglion cells. The cochlear nerve appeared to be diminished. The sensory epithelium of the saccular and utricular maculae of patient 1 was normal for age. The left temporal bone of patient 2, classified as Usher syndrome genetic subtype USH1D or USH1F, demonstrated the typical signs of severe cochleosaccular degeneration. Present cases and cases from the literature were reviewed in search of an explanation for the above-described differences in histologic findings.- - - - - - - - - - ranking = 1keywords = ganglion (Clic here for more details about this article) |
4/86. Pallido-Luysio-Nigral atrophy revealed by rapidly progressive hemidystonia: a clinical, radiologic, functional, and neuropathologic study.Pallido-luysio-nigral atrophy (PLNA) is a rare neurodegenerative disease in which the clinical and radiologic correlates have not yet been clearly established. A 62-year-old man insidiously developed dystonic postures, choreoathetoid movements, slowness, and stiffness, which initially affected the right hand and foot and progressively spread to the entire right side. T2-weighted magnetic resonance imaging showed increased signal intensity in both left and right medial pallida and in the left substantia nigra. Tests using HMPAO-SPECT and FDG-PET demonstrated left cortical hyperperfusion and hypermetabolism, whereas the left lenticular nucleus was slightly hypometabolic. At age 65, abnormal movements and postures involved all four limbs and the axis causing major gait disturbances, and facial and bulbar muscles atrophied resulting in dysarthria, dysphagia, and impaired breathing. Diffuse amyotrophy and fasciculations also appeared. death occurred at age 66, 4 years after onset. At autopsy, severe bilateral neuronal loss and gliosis restricted to the pallidum, the subthalamic nucleus, the substantia nigra, and the hypoglossal nucleus were noted, accounting for the diagnosis of PLNA with lower motor neuron involvement. Progressive hemidystonia with adult onset represents an unusual clinical presentation for this disorder. Moreover, this observation indicates that a diagnosis of PLNA should be considered for specific magnetic resonance imaging, SPECT, and/or PET data, and suggests that in PLNA, pallidal dysfunction might play a key role in the dystonic presentation.- - - - - - - - - - ranking = 0.3544360305125keywords = nucleus (Clic here for more details about this article) |
5/86. 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 = 0.11814534350417keywords = nucleus (Clic here for more details about this article) |
6/86. A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.Clinical features and results of the blood dna analysis are reported of a child affected with a distinct phenotype of the late infantile form of neuronal ceroid-lipofuscinosis (LINCL). He was affected by microcephaly and hypotonia since the fourth month of life; acquisition of motor and language abilities was severely impaired, and a disorder of communication with stereotyped movements followed. By age four, he developed signs and symptoms of progressive myoclonic encephalopathy along with motor and cognitive deterioration. Extrapyramidal signs were associated with neuroradiological findings of marked atrophy of the caudate nucleus. Specific curvilinear bodies were observed in blood lymphocytes and skin biopsy. Homozygous, nonsense mutation in the CLN2 gene was found giving origin to an Arg208stop, which produces an early transcription termination with loss of translation of about 50% of the gene product. Any relationship between the severe clinical features of our patient and the homozygous mutation here reported must be investigated on a larger number of LINCL patients bearing the same mutation.- - - - - - - - - - ranking = 0.11814534350417keywords = nucleus (Clic here for more details about this article) |
7/86. Clinical aspects of argyrophilic grain disease.Argyrophilic grain disease (AGD) is a dementia in the senium characterized by limbic involvement in the form of massive occurrence of argyrophilic and tau-positive grains in the neuropil. The main affected areas in the limbic system are the hippocampal as well as entorhinal regions, and subsequently the amygdaloid nucleus, where mild to moderate degrees of tissue degeneration are also often observed. Retrospective evaluation of 4 patients with AGD revealed common clinical features which consist of memory disturbance, relatively preserved cognitive function and personality change characterized by emotional disorder with aggression or ill temper. Such clinical characteristics are consistent with limbic involvement, and therefore AGD is thought to be a type of limbic dementia. The lack of kluver-bucy syndrome, which constitutes the basic part of limbic dementia, may indicate chronic, progressive and mild degeneration in the limbic areas in this disease.- - - - - - - - - - ranking = 0.11814534350417keywords = nucleus (Clic here for more details about this article) |
8/86. Delayed onset of hemidystonia and hemiballismus following head injury: a clinicopathological correlation. Case report.The authors report the case of a young man who suffered multiple injuries in a motor vehicle accident, the most significant of which arose in the brain, creating an unusual clinical syndrome. After experiencing an initial coma for several days, the patient was found to have a right-sided homonymous hemianopsia and a right hemiparesis, which was more marked at the shoulder and was accompanied by preservation of finger movement. Dystonic movements appeared 2 months later and progressed, along with increased spasticity on volition, to severe uncontrolled arm movements at 2 years postinjury. This motor disorder continued to worsen during the following 6 years prior to the patient's death. At autopsy, the left side of the brain was observed to have marked atrophy of the optic tract, a partial lesion of the posterior portion of the medial segment of the globus pallidus (GP), and a reduction in the size of the internal capsule at the level of the GP, suggesting impaired circulation to these areas at the time of injury. The isolated lesion of the internal segment of the GP was the presumed cause of the dystonia, acting through an alteration in thalamic inhibition. The atrophic subthalamic nucleus was the probable cause of the hemiballismus. The authors speculate that this and other delayed and progressive features of this case were the result of an active, but disordered, adaptive process that failed to compensate and, instead, caused even greater problems than the original injury.- - - - - - - - - - ranking = 0.11814534350417keywords = nucleus (Clic here for more details about this article) |
9/86. Dysembryoplastic neuroepithelial tumour and cerebellar atrophy: case report.Dysembryoplastic neuroepithelial tumours (DNET) are mainly benign cortical lesions. DNET in the caudate nucleus, thalamus, hypothalamus, pons and cerebellar hemispheres has also been reported. We describe a fronto-temporo-parietal DNET extending to the ipsilateral thalamus and internal capsule, associated with cerebellar lobe atrophy. Involvement of the internal capsule and complication of DNET with cerebellar atrophy have not been reported previously. We emphasise the importance of early diagnosis and treatment of this rare condition.- - - - - - - - - - ranking = 0.11814534350417keywords = nucleus (Clic here for more details about this article) |
10/86. Severe brain atrophy in a case of thalamic variant of sporadic CJD with plaque-like PrP deposition.A 30-year-old woman presented with ataxic gait and progressive mental deterioration, and 3 years later developed myoclonus in the limbs. Subsequently, she lapsed into an akinetic state and died more than 6 years after the onset of disease. The brain weighed 670 g, and preferential degeneration was found in the medial thalamus and the inferior olivary nucleus. In the cerebrum and cerebellum, gliosis and neuronal depletion were only mild and disintegration of the parenchymal structures was inconspicuous, despite pronounced atrophy. The patient had methionine homozygosity at codon 129 of the PrP gene and protease-resistant PrP type 2 in the brain. On PrP immunostaining, plaque-like deposits were detected in the cerebral and cerebellar cortices. Severe brain atrophy such as in the present case has never been described in the thalamic variant of sporadic CJD.- - - - - - - - - - ranking = 0.11814534350417keywords = nucleus (Clic here for more details about this article) |
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