1/115. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. Two siblings manifested a neuro-haematologic syndrome characterised by low birth weight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia and pancytopenia without either telangiectasia or chromosomal instability. One sibling died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of purkinje cells and minimal gliosis. A surviving sibling has shown haematologic progression to a myelodysplastic disorder. There was no evidence of any chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. monosomy-7 was not present in the surviving sibling. We suspect that these two patients represent another example of the rare Hoyeraal-Hreidarsson syndrome and we are currently engaged in very close monitoring of the surviving sibling for evidence of any karyotypic abnormality. ( info) |
2/115. Multimodal MR imaging: functional, diffusion tensor, and chemical shift imaging in a patient with localization-related epilepsy. PURPOSE: To demonstrate the integration of complementary functional and structural data acquired with magnetic resonance imaging (MRI) in a patient with localization-related epilepsy. methods: We studied a patient with partial and secondarily generalized seizures and a hemiparesis due to a malformation of cortical development (MCD) in the right hemisphere by using EEG-triggered functional MRI (fMRI), diffusion tensor imaging (DTI), and chemical shift imaging (CSI). RESULTS: fMRI revealed significant changes in regional blood oxygenation associated with interictal epileptiform discharges within the MCD. DTI showed a heterogeneous microstructure of the MCD with reduced fractional anisotropy, a high mean diffusivity, and displacement of myelinated tracts. CSI demonstrated low N-acetyl aspartate (NAA) concentrations in parts of the MCD. CONCLUSIONS: The applied MR methods described functional, microstructural, and biochemical characteristics of the epileptogenic tissue that cannot be obtained with other noninvasive means and thus improve the understanding of the pathophysiology of epilepsy. ( info) |
| BACKGROUND: ehlers-danlos syndrome (EDS) is a heterogeneous group of generalized connective tissue disorders that has been described in association with epilepsy and cerebral cortical dysplasia, mostly gray matter heterotopias, in 3 reports. However, to our knowledge, association of EDS with another type of cortical cerebral dysplasia, bilateral focal polymicrogyria, has never previously been described. SETTING: Two research-oriented hospitals. patients: We describe 2 patients with EDS and bilateral polymicrogyria. The first, a 29-year-old black man, presented with EDS of unspecified type, seizures, and bilateral frontocentral and frontoposterior polymicrogyria with hypoplasia of the inferior part of the cerebellar vermis. The second, a 20-year-old woman, had type III EDS, seizures and congenital bilateral perisylvian syndrome with polymicrogyria. CONCLUSIONS: The association of bilateral focal polymicrogyria and EDS in these 2 patients suggests that extracellular matrix proteins implicated in the pathogenesis of EDS, such as collagen and tenascin, may play an important role in cerebral cortical formation and organization. In a clinical setting, the association of EDS with these cortical structural lesions has implications for diagnosis and management. ( info) |
4/115. Slow-frequency repetitive transcranial magnetic stimulation in a patient with focal cortical dysplasia. PURPOSE: To evaluate the effect of slow-frequency repetitive transcranial magnetic stimulation (SF-rTMS) on interictal epileptiform activity and seizure frequency in a patient with medically refractory partial seizures due to focal cortical dysplasia. methods: A 9-cm circular coil was positioned over the area of cortical dysplasia. One hundred stimuli given at 0.5 Hz at 5% below motor threshold were given biweekly for four consecutive weeks. The EEG was recorded for 30 min before and after the first 100 stimuli. The number of seizures during the month of stimulation was compared with that of the month before stimulation. RESULTS: Stimulation was associated with a 70% reduction in the frequency of seizures and a 77% reduction in the frequency of interictal spikes. No seizures occurred during stimulation. CONCLUSIONS: SF-rTMS was safe and well tolerated in this patient. The reduction in seizures and interictal spikes associated with SF-rTMS supports the concept of SF-rTMS-induced cortical inhibition. ( info) |
5/115. Can early postnatal closed head injury induce cortical dysplasia. PURPOSE: Increased availability of surgically resected epileptogenic tissues reveals often unsuspected cortical dysplasia (CD). There is some controversy about the ontogenic stages in which these occur. Although most take place during neuroblast proliferation and migration, there is some evidence for some CD occurring during postmigrational intrinsic cortical organization. It has been shown that various kinds of focal cortical manipulations in rats, if performed within 3-4 postnatal days, lead to the genesis of various cortical malformations including a four-layered microgyrus or an unlayered CD. It is not known whether such events also might occur in the human brain. methods: Two children sustained minor head trauma within 4 postnatal days and later developed intractable epilepsy, which was relieved by surgery. Neuropathologic analysis of the resected tissues revealed an unsuspected microdysplastic cortex immediately adjacent to a focal, modest meningeal fibrosis, presumably secondary to the old closed head trauma. RESULTS: The main histologic features were a disorganized, unlayered cortex; abnormal clusters of neurons, often with complex, randomly oriented proximal dendritic patterns with absent apical orientation; the presence of a number of heterotopic small and large neurons in the white matter; absence of inflammatory infiltrates, of hemosiderine, of reactive gliosis, or of an excessive number of blood vessels. The morphologic features in these surgical specimens suggest that these focal malformations occur because of a regional disorder of postmigrational intrinsic cortical remodeling. CONCLUSIONS: The clinical histories and the pathologic findings lend some support to the hypothesis that minor morbid events occuring in the immediate postnatal period may lead to microdysplasia in the human similar to those induced in rat pups. The animal model could be helpful to clarify the genesis of some cases of CD and of the epileptogenicity often manifesting later in life. ( info) |
6/115. Bilateral periventricular and subcortical heterotopia in a man with refractory epilepsy. PURPOSE: To report a novel malformation in a male subject with refractory partial seizures. methods: magnetic resonance imaging (MRI) and data reformatting in a subject referred for management of partial seizures. RESULTS: The patient had four distinct partial seizure types, without learning disability. MRI demonstrated the novel association of bilateral laminar subcortical heterotopia, bilateral temporal periventricular heterotopia, and hippocampal malformation. CONCLUSIONS: This previously unreported complex bilateral neocortical and archicortical malformation in a male patient cannot be explained by known genetic causes of heterotopia, raising the possibility of a novel gene involved in brain formation. ( info) |
7/115. Bilateral frontoparietal polymicrogyria and epilepsy. Two patients with bilateral frontoparietal polymicrogyria are reported. Severe developmental delay, mental retardation, spastic tetraplegia, and seizures were the main clinical features. magnetic resonance imaging revealed a bilateral thick cortex with irregular gyri and a festoonlike gray-white matter junction. Bilateral frontoparietal polymicrogyria may represent a further form of the bilateral polymicrogyria syndromes in addition to perisylvian and parasagittal parieto-occipital polymicrogyria. ( info) |
8/115. Congenital varicella syndrome in the absence of cutaneous lesions. A case of congenital varicella syndrome characterized by intrauterine growth retardation, ocular and neurologic abnormalities, but no cutaneous lesions is reported. This case highlights the risk of embryopathy from varicella infection during pregnancy in non-immune women. ( info) |
9/115. Is monochorionic twinning a risk factor for focal cortical dysgenesis? OBJECTIVES: Various genetic and acquired factors have been proposed as being etiologically important in cortical dysgenesis. It has been suggested that fetal, developmental abnormalities may be induced by transient, circulatory instability in monochorionic twinning due to feto-fetal transfusions. We report the discordant occurrence of a malformation of cortical development in monozygotic, monochorionic twins, and discuss the findings and possible pathogenetic mechanisms. MATERIAL AND methods: The twins were females, 30 years of age, one of them suffering from uncontrolled localization-related epilepsy. Neurological deficits or mental retardation were not present. Genetic analysis, brain MRI, and a neuropsychological test battery were carried out. RESULTS: dna analysis verified monozygocity. MRI showed a unilateral grey matter heterotopion and a contralateral temporal arachnoid cyst in the affected twin. Neuro-psychological assessment revealed no corresponding focal cognitive deficits, but an overall slightly lowered performance in the affected twin. CONCLUSION: Discordant affection of focal, cortical dysgenesis in monozygotic twins creates a particular opportunity to assess the consequences of such a disorder. The fact that only a mild generalized influence on cognitive functioning was demonstrated in this case, is possibly due to the plasticity of the fetal brain. According to current, obstetrical literature, the unique embryology of monochorionic twinning may predispose to vascular events in early fetal life. As ultrasound studies now indicate that a large proportion of pregnancies start out as twin products, we hypothesize that the "vanishing twin" syndrome and its potential hemodynamic hazard to the surviving fetus may be an etiological factor in malformations of cortical development, even in singletons. ( info) |
10/115. poland-Moebius syndrome: a case report. BACKGROUND: The primary site of pathology in Moebius syndrome is still unknown, although several studies have variably localized the lesion in the extraocular muscles, cranial nerves, or central nervous system. CASE: A 24-year-old man with poland-Moebius syndrome and acquired progressive bilateral paralytic lower eyelid ectropion is described. OBSERVATIONS: In this patient, magnetic resonance imaging studies revealed a barely detectable pontine hypoplasia and normal recti muscles. Nerve conduction studies of the facial nerves showed a severe demyelinating or dysmyelinating type of neuropathy. Bilateral lower eyelid ectropium of the patient was successfully corrected by canthal tightening procedures. CONCLUSION: Contrary to many reported cases, this patient serves as a rare example of a progressive type of poland-Moebius syndrome presumably resulting from a combination of a brainstem abnormality and a peripheral neural degenerative process. ( info) |