Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with medically intractable temporal lobe epilepsy (TLE) undergo medial temporal lobectomy with hippocampectomy for one of two reasons. (1) A lesion (tumor or arteriovenous malformation) adjacent to, but not invasive of, the hippocampus, results in the removal of the lesion and adjacent hippocampus in order to ensure a tumor-free margin. This group will be referred to as tumor-related TLE (TTLE) patients. (2) The operation is performed when depth electrode recordings and other evaluative techniques point to the hippocampus as the focus of seizure initiation. This group will be referred to as cryptogenic TLE (CTLE) patients. Analysis of the hippocampi of these two groups of patients reveals that the TTLE hippocampus is quite similar to that of autopsy subjects in its chemical neuroanatomy. However, the dentate gyrus of the CTLE patients shows considerable morphological and cytochemical reorganization. This reorganization is characterized by a number of features. (1) There is a loss of granule cells which occurs either as a patchy loss and/or a thinning of the granule cell layer. (2) Remaining granule cells which contain dynorphin appear to produce recurrent collaterals into the inner molecular layer of the dentate gyrus. (3) In the subgranular region of the hilus (the polymorphic layer) there is a selective loss of interneurons immunoreactive for somatostatin, neuropeptide Y and substance P. (4) There appears to be an increase in fibers immunoreactive for somatostatin and neuropeptide Y which extend throughout the dentate molecular layer. Somatostatin fibers being less numerous than neuropeptide Y fibers (5). The distributions of a number of neurotransmitter receptors also show striking reorganization in the dentate gyrus of the CTLE hippocampus. (6) Second messenger systems protein kinase C and adenylate cyclase, and Na+, K(+)-ATPase activity, as determined by ouabain binding, is increased in the molecular layer of CTLE. This remodeling of the CTLE hippocampus may hold the key to the mechanisms of hyperexcitability of the granule cells in the hippocampus of this group, and consequently the generation of seizures. The removal of the hippocampus in CTLE patients results in good control of seizures, whereas removal of hippocampi that do not show such reorganization, in a group of patients classified as atypical CTLE patients, results in inadequate seizure control. These findings suggest a complex series of processes in converting the properly regulated granule cells into hyperexcitable ones.
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PMID:Neurotransmitters and their receptors in human temporal lobe epilepsy. 136 31

Thirty-two autopsied cases of progressive neuronal degeneration of childhood with liver disease are reviewed. The typical clinical course is intractable seizures and liver failure following a period of developmental delay and failure to thrive in early infancy, but some children first present with seizures. Characteristic changes on the electroencephalogram, loss of visual-evoked potentials, occipital atrophy on computed tomographic scan, and particular changes on liver biopsy may assist diagnosis. Most patients succumb in less than 3 years, but some have a protracted survival into their teens, and very rarely they may present in early adulthood. Liver pathology comprises fatty change, hepatocyte loss, bile duct proliferation, fibrosis, and often cirrhosis. Gradual progression can be followed in sequential biopsies. Macroscopically, the cerebral cortex is variably involved, but usually there is patchy thinning and discoloration, with a striking predilection for the striate cortex. Microscopic changes include spongiosis, neuronal loss, and astrocytosis, which progresses down through the cortical layers. All areas may be affected but the calcarine cortex is usually most affected. Etiology is still obscure, though mitochondrial and slow viral disorders have been postulated.
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PMID:Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review. 224 81

MR findings in 13 patients who underwent corpus callosotomy for medically intractable seizures were reviewed. Preoperative MR studies were available in nine patients: five showed at least one morphological and/or MR signal abnormality including corpus callosal thinning (four cases), cerebellar atrophy (two cases), cortical atrophy (two cases), and periventricular hyperintensity on T2-weighted images (one case). Four patients had normal MR studies. Postoperative MR studies were obtained in 11 patients with subtotal callosotomy and two with total callosotomy. Of all pulse sequences, sagittal T1-weighted images best showed the surgical division, although two cases displayed a coaptation artifact, which was misleading. A surgical clip placed at the posterior extent of the callosotomy was best visualized with sagittal T1-weighted imaging. Two patients (15%) had MR findings consistent with subacute blood in the callosum, and three patients (23%) demonstrated parafalcial hyperintensity on T2-weighted images 1 week after callosotomy. Motion artifact was a significant problem with coronal imaging and T2-weighted pulse sequences in postoperative patients. Patients selected for corpus callosotomy may have a normal baseline MR or show nonspecific abnormalities. MR imaging is an effective method for evaluating callosal division, and in some cases, may demonstrate signal changes consistent with surgically related edema and/or blood.
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PMID:MR imaging of corpus callosotomy. 250 97

A 3-year-old horse presented with intermittent generalized seizures of 2-month duration. During interictal periods, the horse appeared normal and a cause for the seizures could not be identified. Necropsy revealed opacity of the leptomeninges, covering most of one cerebral hemisphere along with thinning and collapse of the cortex in the ipsilateral pyriform lobe. Histopathology demonstrated leptomeningeal vascular proliferation and meningothelial hyperplasia. Prominent tortuous vessels of the gyri and sulci extended into some regions of the subjacent cortex, where there was neuronal loss, ectopia, and disorganization. Clusters of prominent arterioles were found in the sclerotic choroid plexus of the lateral and fourth ventricles. Milder vascular lesions were present in the leptomeninges of the ventral brain stem, right cerebrum, spinal cord, and in the eye. The left trigeminal nerve was distorted by swollen fasicles containing onion bulb-like structures. Most bulbs contained central axons surrounded by myelin sheaths of variable thickness. Electron microscopy demonstrated concentrically arranged cells with continuous basal laminae and rare pinocytotic vesicles. S-100 immunohistochemistry showed strong positive staining in these cells. This is an unusual combination of lesions to which analogies can be drawn with the human neuroectodermal dysplasias, specifically Sturge-Weber disease. The relationship of the neuropathy to the leptomeningeal hemangiomatosis is unclear, but a compound anomaly in embryological development resulting in dysplasia and neoplasia may be involved.
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PMID:Meningocerebral hemangiomatosis resembling Sturge-Weber disease in a horse. 368 94

A seven-year-old boy who was admitted for surgical treatment for intractable epilepsy was found to have a ganglioglioma in his left parietal lobe. Since four years old, he had been suffering from the seizure and treated with various anticonvulsants without satisfactory effects. As its frequency increased, the dose had to be increased. Thus, it was sought for the possible surgical approach. On the CT scans, an egg size low density zone without contrast enhancement was observed in the subcortical region of his parietal lobe. There was marked thinning on inner table of the skull immediately above the zone. He was operated under fronto-temporo-parietal craniotomy. When the dura matter was opened, pale cerebral cortex protruded. Complete removal of the tumor was not possible, since there was not clear boundary between the mass and normal tissue. Based on histological study, it was diagnosed as ganglioglioma, because its main body contained increased number of glia which had deeply stained ununiform size nuclei. After the operation, he showed neither motor paralysis nor sensory disturbance and was able to sustain his activity with less amount of anticonvulsant.
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PMID:[Ganglioglioma in a child--report of a case]. 376 54

In a group of 78 children with hydrocephalus in the first months of life, the level and pattern of intelligence were considered in relation to various parameters and symptoms of their condition. These included demography (age, sex, handedness); early developmental status; symptoms (visual, motor, and seizure); formative pathology; type of hydrocephalus; site of CSF obstruction; extent and configuration of cortical thinning; and shunt treatment. The common outcome of early hydrocephalus is an uneven growth of intelligence during childhood, with nonverbal intelligence developing less well than verbal intelligence. The origin of this selective cognitive deficit is in neither the hydrocephalic condition itself nor its treatment, but rather in the developmental brain anomalies and symptoms to which the hydrocephalic child is prone: In children with aqueduct blocks and intraventricular hydrocephalus, a selectively thin vertex and occipital lobe; in any hydrocephalic child, ocular abnormalities, motor deficits, and seizures.
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PMID:The intelligence of hydrocephalic children. 697 94

The tissue non-specific alkaline phosphatase (TNAP) knock-out mouse is a model of infantile hypophosphatasia displaying impaired bone mineralization, epileptic seizures, apnoea, abnormal apoptosis in the thymus, abnormal lumbar nerve roots, and postnatal death. Administration of vitamin B6 suppresses the epileptic seizures in TNAP-/- mice. This paper examines to what extent the diverse abnormalities seen in these mice are due to impaired utilization of vitamin B6, using two complementary approaches: administration of vitamin B6 to TNAP null mice and deprivation of vitamin B6 in wild-type and TNAP heterozygous mice. Administration of exogenous pyridoxal HCl delayed the onset of epileptic attacks and increased the life span of TNAP-/- mice. The episodes of apnoea ceased and the appearance of lumbar nerve roots improved, but hypomineralization and accumulation of osteoid continued to worsen with age. Control mice fed a vitamin B6-depleted diet developed epileptic seizures indistinguishable from those observed in TNAP-/- mice, abnormal apoptosis in the thymus, and thinning of the nerve roots, but showed no evidence of bone mineralization abnormalities. Depletion of vitamin B6 did not affect the ability of primary cultures of osteoblasts to deposit bone mineral in vitro. While abnormal metabolism of vitamin B6 explains many of the abnormalities in this mouse model of infantile hypophosphatasia, it is not the basis of the abnormal mineralization that characterizes this disease.
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PMID:Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization. 1116 25

A case report of neonatal onset pyridoxine-dependent seizures in a male patient with early diagnosis and treatment is presented. The patient's epilepsy was recognized and treated with pyridoxine (vitamin B6) within 8 hours of birth. Treatment has been nearly continuous since that time. This paper reports the results of a full neuropsychological evaluation at age 37 years and MRI completed at age 31 years. Consistent with other case reports in the literature, there was a significant Performance IQ (PIQ) advantage with decreased Verbal IQ (VIQ) and expressive language skills (Full-Scale IQ 71, VIQ 64, PIQ 85). MRI demonstrated characteristic thinning of the posterior corpus callosum. This report provides an example of early treatment that nonetheless results in a mild mental retardation. The similarity of the structural changes on MRI and the cognitive profile of this patient to those of others reported in the literature suggest that the underlying mechanism for both may be the same.
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PMID:Pyridoxine-dependent seizures and cognition in adulthood. 1458 Jan 35

Functional magnetic resonance imaging and transcranial magnetic stimulation were used to examine a 34 year-old right-handed patient, who, at the age of 6 years, had experienced sudden right hemiplegia, seizures, and stupor during a bout of measles encephalitis, followed by incomplete distal right motor recovery. Morphological MRI showed massive unilateral enlargement of the left ventricle, associated with extreme thinning of the white and gray matter,with partial preservation of the pyramidal tract. Functional MRI and transcranial magnetic stimulation revealed reorganization of the motor cortices, and integrity of the corticospinal pathway, respectively. Our findings indicate that complete hand motor recovery may require functional connections between the motor cortical areas and cortical-subcortical structures, in addition to the retained integrity of the primary sensorimotor area and pyramidal tract.
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PMID:Functional anatomy of motor recovery after early brain damage. 1578 63

In a nation-wide survey of Aicardi syndrome, defined as the onset of epilepsy in the first six months of life, agenesis of the corpus callosum (partial or total) and lacunar chorioretinopathy, 18 patients, all girls, born between 1975 and 2002 were identified in Sweden. Fifteen were definite cases and three were regarded as probable, since they only fulfilled two of three inclusion criteria in addition to other cerebral malformations and/or chorioretinal changes. Calculations based on this survey and population-based studies on epilepsy in retarded children yielded a prevalence rate in the range of 2 - 15 : 100 000 girls. All but one had an ordinary birth weight, length and head circumference for gestational age. One was born preterm, one post term. The age at diagnosis varied from three days to 12 years and decreased during the period reflecting the increased awareness of the syndrome. Eleven came to medical attention because of seizures. Six had myoclonic, four generalized tonic-clonic and eight tonic, clonic or complex partial seizures. One had hypsarrhythmia, five multifocal epileptiform activity, three bilateral independent bursts, two burst-suppression pattern, six other types of spikes and one slowing of background activity. Asymmetrical EEG abnormalities indicating independent hemispheric dysfunction were detected in 13/18 (72 %). Complete absence of the corpus callosum was found in 13/18 (72 %), although not identical with the previous group, a partial defect in 3/18 (17 %), and a thinning in 2/18 (11 %). Of 15 children with definite Aicardi syndrome, 13 had binocular and two monocular lacunae. In one of the latter two, subtle monocular lacunae were found on fundus photographs, but had been missed on repeated clinical examinations. Of three children with probable Aicardi syndrome typical lacunae were reported in one and other kinds of depigmentation in the other two. Most of the children had anomalous optic discs. Neuroimaging in infancy or early childhood combined with ophthalmological examination and ocular fundus photography will facilitate an early diagnosis of Aicardi syndrome. Seizure type and EEG abnormalities may be non-specific at onset.
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PMID:Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. 1696 67


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