1/191. Treatment of seizures in subcortical laminar heterotopia with corpus callosotomy and lamotrigine.Focal and generalized cortical dysgeneses are sometimes seen on the magnetic resonance images (MRI) of patients with epilepsy. Subcortical laminar heterotopia are bilateral collections of gray matter in the centrum semiovale that resemble a band or "double cortex" on MRI. We studied one male and two female patients with subcortical laminar heterotopia who had moderate to severe developmental delay, early-onset epilepsy, and medically refractory seizures. Atonic, atypical absence, tonic, myoclonic, complex partial, and generalized tonic-clonic seizures were recorded. Interictal and ictal electroencephalographic patterns were generalized and, less commonly, multifocal. Two years after corpus callosotomy, one patient was free of generalized tonic-clonic and atonic seizures, but the other patient who had undergone callosotomy had no significant reduction in seizure frequency. With lamotrigine treatment, the patient who had not had surgery had complete cessation of monthly episodes of status epilepticus and a dramatic reduction of generalized tonic-clonic seizures, and the other patient who received lamotrigine had a 50% reduction of her atonic seizures. In patients with subcortical laminar heterotopia, atonic and generalized tonic-clonic seizures can be substantially reduced or eliminated by corpus callosotomy or treatment with lamotrigine.- - - - - - - - - - ranking = 1keywords = focal (Clic here for more details about this article) |
2/191. "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 = 1keywords = focal (Clic here for more details about this article) |
3/191. Apnoeic attacks as an isolated manifestation of epileptic seizures in infants.Apnoea as an isolated manifestation of seizures is well described in neonates but is only occasionally observed in infants. We present data from four infants, with apnoea as the sole manifestation of seizures, documented by polygraphic ictal electroencephalogram (EEGC) and video recording. The four infants, after normal pregnancy and delivery at term, showed the first apnoea at the age of 2-11 months. The interictal EEG was normal. The ictal EEG and video recording showed in all infants a focal rhythmic alpha or theta activity with or without generalization, which lasted 40-120 seconds. The apnoea appeared a few seconds after the beginning of rhythmic activity and the heart rate remained unchanged during the apnoea. At 2 years' follow-up, three children are seizure-free under anti-epileptic therapy with normal psychomotor development in two, and a slight delay in the third infant. The fourth child has partial seizures and is severely retarded.- - - - - - - - - - ranking = 1keywords = focal (Clic here for more details about this article) |
4/191. Familial pontocerebellar hypoplasia type I with anterior horn cell disease.We report the association of pontocerebellar hypoplasia and anterior horn cell disease in three female siblings. One child presented with the classical clinical and neuropathological features of pontocerebellar hypoplasia with associated anterior horn cell disease, described by Barth as pontocerebellar hypoplasia type I. This patient showed polyhydramnios, congenital contractures, respiratory insufficiency, hypotonia, areflexia, listlessness and myoclonic seizures. Postmortem examination revealed a loss of neurons and reactive gliosis in the pontocerebellum and in addition anterior horn cell atrophy resembling Werdnig-Hoffmann disease. Another sibling demonstrated the same clinical symptoms. However neuropathological findings showed evidence for pontocerebellar hypoplasia only. The third sibling was examined after induced fetal abortion because of prenatally diagnosed arthrogryposis. Anterior horn cell disease was obvious histologically whereas pontocerebellar hypoplasia could not be demonstrated due to cerebral autolysis. The similar clinical and neuropathological findings in the three reported siblings suggest a common genetic defect with different patterns of pontocerebellar hypoplasia and associated anterior horn cell disease. The gene defect of this rare disorder is still unknown. The 'survival motor neuron' gene of spinal muscular atrophy was not found in these three siblings.- - - - - - - - - - ranking = 67.246284350468keywords = hypoplasia (Clic here for more details about this article) |
5/191. brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy.We report the brain magnetic resonance imaging (MRI) findings in 23 patients with merosin-positive congenital muscular dystrophy (CMD). Twelve patients had normal scans. Eight other children had essentially normal scans but showed mild non-specific periventricular white matter changes. Three children had structural abnormalities on imaging. The first patient, a 15-month-old boy with hypotonia, muscle weakness and global development delay, had moderate cerebellar atrophy and mild dilatation of the lateral ventricles. The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months. The third patient, a 15-year-old ambulant male with normal intelligence and complex partial seizures, had polymicrogyria of both temporoparietal lobes on brain MRI. The clinical features and motor ability of children with merosin-positive CMD are variable, although usually milder than merosin-deficient CMD. Our findings confirm that central nervous system involvement can occur in some merosin-positive cases. We suggest performing brain MRI in children with merosin-positive CMD, as this may help in our understanding of this very heterogeneous disease.- - - - - - - - - - ranking = 6.7246284350468keywords = hypoplasia (Clic here for more details about this article) |
6/191. Focal cortical dysplasia of the temporal lobe with late-onset partial epilepsy: serial quantitative MRI.We describe serial studies of focal cortical dysplasia causing temporal lobe seizures and progressive aphasia in a 54-year-old woman. Initially, MRI volumetry of the temporal lobes showed significant left cortical thickening corresponding to an elevated amino-acid uptake in the left temporoparietal and inferior frontal cortex on SPECT using 3-[123I]iodo-alpha-methyl-L-tyrosine (IMT). After 1 year there was severe shrinkage of the left temporal lobe, possibly the result of recurrent complex partial seizures.- - - - - - - - - - ranking = 1keywords = focal (Clic here for more details about this article) |
7/191. Seizure with prominent tonic initial signs followed by psychomotor features: a case report clinically manifesting an unusual ictal evolution.A clinically tonic seizure phase, immediately followed by psychomotor features (right hand dystonic posture, left hand and oral automatisms), was recorded by video and EEG, in a patient who had gliosis of the left temporal lobe and left hippocampal atrophy. Interictal epileptiform discharges were frequently seen in the left temporal area, and at the time of the tonic seizure phase, ictal spike discharges were continuously observed at the left posterior temporal area, which was recognized only by applying a high frequency filter (HFF) of 15 Hz to the digitally recorded EEG because EMG artifacts totally obscured the EEG with a HFF of 60 Hz. It is most likely that tonic seizure can occur in an adult patient with temporal lobe epilepsy, and it is speculated that an epileptogenic focus might activate a certain brain area which is regarded as a symptomatogenic zone for tonic seizures. If the tonic seizure phase is immediately followed by psychomotor features as seen in the present patient, the former could be due to focal epilepsy.- - - - - - - - - - ranking = 1keywords = focal (Clic here for more details about this article) |
8/191. Giant congenital melanocytic nevus with underlying hypoplasia of the subcutaneous fat.A 17-week-old boy with a giant congenital melanocytic nevus (GCMN) of the left lower extremity was noted to have a reduction in circumference of the left lower extremity relative to the contralateral side. The skin overlying the GCMN was persistently warm when compared with the surrounding and contralateral skin. Comparative plain radiography, ultrasonography, and magnetic resonance imaging showed fat hypoplasia of the left lower extremity, with bone and muscle appearing unaffected. The possible role of cytokines produced by the nevus in fat hypoplasia in GCMN is discussed.- - - - - - - - - - ranking = 40.347770610281keywords = hypoplasia (Clic here for more details about this article) |
9/191. Linear atrophoderma of Moulin.We report a typical case of linear atrophoderma of Moulin that represents a distinct clinical entity. A 17-year-old woman presented with hyperpigmented and atrophic band-like skin lesions measuring 3-5 cm in breadth on the right side of her trunk and on the right buttock, in an arrangement following the system of Blaschko's lines. The skin lesions had a normal texture and showed no signs of inflammation, lilac ring, erythema, induration, sclerosis or depigmentation. Routine laboratory data were normal. Antinuclear antibodies and anti-Scl70-antibodies were negative. Histopathologically, a moderate diffuse hyperpigmentation within the lower epidermis, a focal vacuolar degeneration of the basal layer, and a few dermal perivascular lymphocytes accompanied by signs of pigment incontinence were noted. Intravenous penicillin g was administered for 14 days in a dosage of 10 x 10(6) IU twice daily. This treatment was repeated after 3 and 9 months. No effect was noted. Linear atrophoderma of Moulin takes a chronic course without progression or regression. The disease leads to significant cosmetic impairment and this may cause emotional stress. Due to its relationship to idiopathic atrophoderma of Pierini-Pasini and linear scleroderma, treatment with intravenous penicillin was tried. In our case it had no effect.- - - - - - - - - - ranking = 1keywords = focal (Clic here for more details about this article) |
10/191. New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy.A new syndrome of unknown origin is reported, consisting of facial dysmorphism (upward slanted palpebral fissures, single superior central incisor, narrow, cylindrical nose with hypoplastic alae), bilateral agenesis of the clavicles, limited movements of elbow and fingers, calf atrophy and pes cavus with abolished reflexes (Charcot-Marie-tooth syndrome, unspecified type).- - - - - - - - - - ranking = 26.898513740187keywords = hypoplasia (Clic here for more details about this article) |
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