1/250. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.- - - - - - - - - - ranking = 1keywords = visual (Clic here for more details about this article) |
2/250. Pathological study on sibling autopsy cases of the late infantile form of neuronal ceroid lipofuscinosis.We report autopsy cases of two brothers with the late infantile form of neuronal ceroid lipofuscinosis (LINCL) and examine apoptotic cell death in autopsied brains. Both patients showed psychomotor developmental delay, cerebellar ataxia, convulsions, visual disturbance and myoclonus, and they became bedridden around the age of 6-7 years. Macular changes, mimicking cherry-red spots, were observed on funduscopy, but conjunctival biopsy failed to disclose storage materials. In these cases, the autopsies demonstrated severe atrophy with neuronal loss and gliosis throughout the brain and spinal cord, except the hypothalamic neurons and motor neurons in the brain-stem and spinal cord, and autofluorescent lipofuscin-like materials of two types, fine granular deposits and coarse round bodies, were stored in the remaining neurons and glial cells, and in the epithelial cells of various visceral organs. Immunostaining for mitochondrial subunit C visualized the fine granular deposits but not the coarse round bodies. The nuclei of neurons and glia cells were stained by in situ nick end labeling, which was more pronounced in the younger case, although the expression of both bcl-2 and bcl-x was not significantly altered in these cases. It is suggested that immunohistochemistry for subunit C may be useful for diagnosis of NCL, and further investigations are necessary to clarify the relationship between LINCL and apoptosis, especially in severely affected cases.- - - - - - - - - - ranking = 2keywords = visual (Clic here for more details about this article) |
3/250. MR measurement of regional relative cerebral blood volume in epilepsy.The purpose of this study was to evaluate the utility of magnetic resonance (MR) relative cerebral blood volume (rCBV) maps for studying regional hemodynamic changes in interictal and ictal epilepsy patients. Ten epilepsy patients were examined on a 1.5 T MR system. Nine patients were investigated interictally and one patient ictally. In the nine interictal patients, the dynamic plane was defined coronally through the hippocampus symmetrically. For the ictal patient, an axial dynamic plane was defined and the patient was scanned during seizure. Positron emission tomography (PET) studies were performed in 8 of the 10 patients. Lower rCBV of the left hippocampus was predicted by rCBV maps in seven of the nine interictal patients. The mean ratios of rCBV were 1.96 for left hippocampus/white matter and 2.49 for right hippocampus/white matter. The difference between these two ratios is statistically significant (P = 0.01, t-test). In two of the nine interictal temporal lobe epilepsy patients, lower rCBV areas were observed in the right hippocampus. In the ictal patient, the regional rCBV map demonstrated increased blood volume in the lesions. In eight of eight patients who underwent PET studies, MR rCBV findings were consistent with PET findings. The results show that regional hemodynamic changes in epilepsy can be evaluated with dynamic contrast-enhanced MR imaging. MR rCBV maps are sensitive to characterize seizure foci both ictally and interictally.- - - - - - - - - - ranking = 0.15977583190143keywords = contrast (Clic here for more details about this article) |
4/250. MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency.MRI was performed in two siblings with the neuropathic sphingomyelinase deficiency caused by identical mixed heterozygosity in the structural acid sphingomyelinase gene. The clinical phenotype of the cases is unique in showing a rather protracted course, both having reached the fourth decade. Pronounced cerebellar and mild supratentorial atrophy was seen on MRI in both siblings, in contrast to their strikingly different clinical status. One has no overt neurological deficit, while the second had neocerebellar symptoms and signs, nystagmus and cranial nerve palsies for some years. The MRI findings, together with the cherry-red spot in the ocular fundus, ultrastructurally proved storage in cutaneous nerve schwann cells and the histopathologically proven brain neuronal storage in a third sibling who died after a relatively rapid course dominated by fatal visceral storage, is evidence that a remarkably restricted neuropathology can be caused by this enzymopathy.- - - - - - - - - - ranking = 0.15977583190143keywords = contrast (Clic here for more details about this article) |
5/250. multimodal imaging of residual function and compensatory resource allocation in cortical atrophy: a case study of parietal lobe function in a patient with Huntington's disease.In a case of Huntington's disease (HD) with dementia and pronounced parieto-frontal atrophy, the functional state of the affected regions was investigated using functional magnetic resonance imaging (fMRI) and fluorodeoxyglucose-positron emission tomography (FDG-PET). It was observed that although parietal areas showed extensive atrophy and reduced resting glucose metabolism, the patient performed with similar accuracy but with longer response time in a visuospatial task compared with healthy control subjects. At the same time, the blood oxygen level-dependent (BOLD) fMRI signal in these areas, which are involved in visuospatial processing, showed a similar task-dependent modulation as in control subjects. The signal amplitude (signal percent change) of the task-dependent activation was even higher for the HD patient than in the control group. This residual functionality of parietal areas involved in visuospatial processing could account for the patient's performance in the task concerned, which contrasted with his poor performance in other cognitive tasks. The increased percent-signal change suggests that a higher neuronal effort was necessary to reach a similar degree of accuracy as in control subjects, fitting well with the longer reaction time. We propose that fMRI should be considered as a tool for the assessment of functionality of morphologically abnormal cortex and for the investigation of compensatory resource allocation in neurodegenerative disorders.- - - - - - - - - - ranking = 0.15977583190143keywords = contrast (Clic here for more details about this article) |
6/250. Extensive chorioretinal atrophy in Vogt-Koyanagi-Harada disease.PURPOSE: To report extensive chorioretinal atrophy during the long-term course of Vogt-Koyanagi-Harada (VKH) disease not treated properly in the initial phase. CASES: Four patients with VKH disease were examined more than 10 years after onset of the disease. OBSERVATIONS: They presented initially with classic features of VKH disease, except 1 patient who had developed bilateral, acute angle-closure glaucoma as the initial sign. Two patients received systemic corticosteroid therapy at the acute phase of the disease. During the follow-up of 13-34 years subsequent to onset, these patients had chronic recurrent anterior uveitis with apparently stable depigmented fundus. Eventually, they developed diffuse, extensive chorioretinal atrophy that resulted in severe visual loss. One patient had an unusual familial occurrence of the disease. CONCLUSIONS: Failure to prescribe proper corticosteroid therapy in the initial phase of VKH disease may lead to chronic recurrent uveitis. Long-standing uveitic reactions may eventually result in severe visual loss due to extensive chorioretinal degeneration.- - - - - - - - - - ranking = 2keywords = visual (Clic here for more details about this article) |
7/250. "What" and "how": evidence for the dissociation of object knowledge and mechanical problem-solving skills in the human brain.patients with profound semantic deterioration resulting from temporal lobe atrophy have been reported to use many real objects appropriately. Does this preserved ability reflect (i) a separate component of the conceptual knowledge system ("action semantics") or (ii) the operation of a system that is independent of conceptual knowledge of specific objects, and rather is responsible for general mechanical problem-solving skills, triggered by object affordances? We contrast the performance of three patients-two with semantic dementia and focal temporal lobe atrophy and the third with corticobasal degeneration and biparietal atrophy-on tests of real object identification and usage, picture-based tests of functional semantic knowledge, and a task requiring selection and use of novel tools. The patient with corticobasal degeneration showed poor novel tool selection and impaired use of real objects, despite near normal semantic knowledge of the same objects' functions. The patients with semantic dementia had the expected deficit in object identification and functional semantics, but achieved flawless and effortless performance on the novel tool task. Their attempts to use this same mechanical problem-solving ability to deduce (sometimes successfully but often incorrectly) the use of the real objects provide no support for the hypothesis of a separate action-semantic system. Although the temporal lobe system clearly is necessary to identify "what" an object is, we suggest that sensory inputs to a parietal "how" system can trigger the use of objects without reference to object-specific conceptual knowledge.- - - - - - - - - - ranking = 0.15977583190143keywords = contrast (Clic here for more details about this article) |
8/250. Congenital insensitivity to pain with anhidrosis: a case report.Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.- - - - - - - - - - ranking = 1.1550232108859keywords = sensitivity (Clic here for more details about this article) |
9/250. Idiopathic intracranial hypertension: a case report with optic nerve histopathology.We present the clinical and pathologic findings in an atypical case of idiopathic intracranial hypertension. A 51-year-old man had headaches, visual deterioration, papilloedema, and deafness. neuroimaging was normal, and cerebrospinal fluid pressure monitoring confirmed increased intracranial pressure. The patient was treated with a ventriculo-peritoneal shunt. Histopathology revealed grossly atrophic optic nerves with almost complete axonal loss. The prelaminar portion of the optic nerves was thickened by gliosis and hyalinized capillaries, which have not been described previously.- - - - - - - - - - ranking = 1keywords = visual (Clic here for more details about this article) |
10/250. HTLV-I-associated myelopathy: acute progression and atypical MR findings.We describe serial MR imaging findings in a patient with HTLV-I-associated myelopathy. The patient had acute progression of neurologic symptoms and exhibited swelling of the entire length of the spinal cord with increased T2 signal and contrast enhancement on MR imaging. The spinal cord became atrophic a few years later.- - - - - - - - - - ranking = 0.15977583190143keywords = contrast (Clic here for more details about this article) |
| | Next -> |