1/1597. The atrophic variant of dermatofibrosarcoma protuberans in childhood: a report of six cases.dermatofibrosarcoma protuberans (DFSP) is typically diagnosed during early adult life at a tumoral stage. It occurs only rarely in children. We report six childhood cases of DFSP which presented initially with the misleading clinical appearance of atrophic plaques, and we review over 140 cases of DFSP in childhood. As compared with adult forms, DFSP in children does not show distinctive features except for a tendency for acral localization. The diagnosis is difficult because of the slow course of the lesions, which present initially as apparently benign atrophic morphoeaor keloid-like plaques. We believe that DFSP in childhood is probably under-estimated, as a significant proportion of patients diagnosed as young adults had an onset several years earlier. Better knowledge of the initial appearance is important for making an early diagnosis and for an easier surgical treatment.- - - - - - - - - - ranking = 1keywords = et (Clic here for more details about this article) |
2/1597. technetium-99m-HmPAO brain SPECT in infantile Gaucher's disease.The authors report serial technetium-99m hexamethylpropylene-amine-oxime brain single photon emission computed tomography (SPECT) findings in two infants with Gaucher's disease type 2. Detailed neurologic and laboratory examinations, including bone marrow biopsies and enzymatic assays, were described. Serial brain magnetic resonance imaging studies in one patient illustrated the progressive cerebral atrophy in the frontal and temporal lobes. The SPECT in both cases demonstrated positive findings of initial scattered hypoperfusion, with extending to hypoperfusion of the entire cerebrum after 4 months of clinical deterioration. These changes in the SPECT findings may reflect progressive degeneration of the cerebrum in Gaucher's disease type 2. brain SPECT may provide useful information on cerebral flow and metabolic distribution corresponding to the neurologic deficits of neuronopathic Gaucher's disease.- - - - - - - - - - ranking = 5keywords = et (Clic here for more details about this article) |
3/1597. Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum.A Japanese male with mosaicism of ring chromosome 14 and chromosome 14 monosomy is described. He demonstrated the characteristic morphologic features of ring chromosome 14, in addition to mental retardation and epileptic seizures. Clusters of complex partial seizures, one of which originated in the left frontocentral region on electroencephalographic monitoring, were evident. His seizures responded to phenobarbital, and his mental and motor development was only mildly retarded. magnetic resonance imaging revealed a hypoplastic corpus callosum, previously unknown in association with this syndrome.- - - - - - - - - - ranking = 1.5keywords = et (Clic here for more details about this article) |
4/1597. MR and CT imaging in the Dyke-Davidoff-Masson syndrome. Report of three cases and contribution to pathogenesis and differential diagnosis.Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.- - - - - - - - - - ranking = 1.5keywords = et (Clic here for more details about this article) |
5/1597. 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 = 3keywords = et (Clic here for more details about this article) |
6/1597. 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 = 0.5keywords = et (Clic here for more details about this article) |
7/1597. Abrupt exacerbation of acute subdural hematoma mimicking benign acute epidural hematoma on computed tomography--case report.A 75-year-old male was hit by a car, when riding a bicycle. The diagnosis of acute epidural hematoma was made based on computed tomography (CT) findings of lentiform hematoma in the left temporal region. On admission he had only moderate occipitalgia and amnesia of the accident, so conservative therapy was administered. Thirty-three hours later, he suddenly developed severe headache, vomiting, and anisocoria just after a positional change. CT revealed typical acute subdural hematoma (ASDH), which was confirmed by emergent decompressive craniectomy. He was vegetative postoperatively and died of pneumonia one month later. Emergent surgical exploration is recommended for this type of ASDH even if the symptoms are mild due to aged atrophic brain.- - - - - - - - - - ranking = 0.5keywords = et (Clic here for more details about this article) |
8/1597. fucosidosis: immunological studies and chronological neuroradiological changes.A 3.5-y-old boy of Arabic origin had the clinical features of both type 1 and type 2 fucosidosis, consistent with an intermediate form of the disease. The activity of his leucocyte alpha L-fucosidase was absent. He presented with recurrent sinopulmonary infection and otitis media in addition to paronychia and a periapical dental abscess. Investigation of his systemic immune function did not reveal a significant underlying defect, but subtle abnormalities, particularly of antibody production and secretory IgA, cannot be excluded. The cranial magnetic resonance images showed periventricular and subcortical white matter abnormalities and mild cortical atrophy in addition to globus pallidus changes.- - - - - - - - - - ranking = 1keywords = et (Clic here for more details about this article) |
9/1597. Acute hemorrhagic leukoencephalitis in patients with acute myeloid leukemia in hematologic complete remission.The authors describe the cases of three patients affected by acute myeloid leukemia, in complete remission, who rapidly developed neurologic symptoms leading to death. Neither clinical characteristics, nor radiological or microbiological procedures, allowed an etiological diagnosis of the neurologic syndrome. Post-mortem examination of the brain showed both macroscopic and microscopic findings compatible with acute hemorrhagic leukoencephalitis. The difficulty in distinguishing this entity from other CNS disease-related complications (e.g. leukemia infiltration, drug toxicity, hemorrhages) should not lead to an underestimation of the true incidence of this complication. We believe that with more attention to the possibility of this complication there would probably be both a greater possibility of collecting clinical informations about the real impact of this dramatic disease and a stronger hope of finding the right treatment for it.- - - - - - - - - - ranking = 3keywords = et (Clic here for more details about this article) |
10/1597. 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 = 1.5keywords = et (Clic here for more details about this article) |
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