Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fukuyama type Congenital Muscular Dystrophy, inherited autosomal-recessively, is characterized by muscular dystrophy associated with severe mental retardation and epileptic convulsions. By examining 56 cases, followed for more than three years, 75 EEG records from 40 patients and visual evoked potentials from 11 patients with reference to autopsied materials, the authors aimed at clarifying the causative relationship between congenital central nervous system (CNS) lesions and childhood epilepsy. In 36 out of 56 cases diffuse epileptic seizures were observed with onset at 1.64 +/- 1.01 years average. In 32/36 cases seizures developed before 3 years of age. In 51/75 EEGs focal paroxysmal discharges (FPD), fronto-contro-parietal in younger and centro-occipital in older cases, were observed. Abnormal basic activities (ABA), diffuse-alpha-activity and/or abundant or extreme spindles, were observed more often in older than younger cases. The incidence of FPD was similar between convulsive and non-convulsive cases, but ABA predominated in the former, VEP revealed abnormal findings in 64% of 11 cases examined. Of the CNS pathology, consisting of cerebral and cerebellar gyral abnormalities and a hypoplastic corticospinal tract, the gyral lesions (verrucous polymicrogyria with adhesions of adjacent gyri and cellular disarrangement) were thought to be lesions causing epilepsy. Cortical nonprogressive gyral lesions occurring around the second trimester could cause FPD and clinical diffuse epileptic seizures develop with other factors concerned with ABA.
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PMID:Fukuyama type congenital muscular dystrophy as a natural model of childhood epilepsy. 12 66

Fifty children with marked neurological abnormality manifested by moderate or severe motor disability and severe mental retardation were compared with a large control population with respect to prospectively ascertained perinatal characteristics. None of 60 prenatal factors distinguished the affected group from controls. In labor and delivery, lowest fetal heart rate in the second stage of labor, arrested progress of labor, and use of midforceps discriminated between the two groups. Neonatal characteristics of children who were later severely handicapped differed from controls, particularly with respect to difficulty in initiating and maintaining respiration, intracranial hemorrhage, neonatal seizures, low birth weight and small head circumference, lowest hemoglobin or hematocrit, and overall neurological status. Multivariate analysis, including factors from all epochs, indicated that intracranial hemorrhage and neonatal seizures were the strongest independent discriminators between the neurologically impaired children and controls.
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PMID:Perinatal risk factors in children with serious motor and mental handicaps. 15 20

Search of the literature thus far indicates no prior description of rhinophyma occuring in tuberous sclerosis. There have been numerous reports of the usual skin lesion, adenoma sebaceum, together with the associated manifestations of severe mental retardation and convulsive seizures. In a 27-year-old woman, full-blown, severely deforming rhinophyma had its onset one year prior to her hospital admission. The family, horrified by her appearance, desired surgical intervention. The report includes a review of the literature and a description of the patient and of the surgical technique employed. The question of the desirability and difficulty involved in skin grafting is discussed, as are the microscopic findings and postoperative course. Particular attention is directed toward differential diagnosis and associated findings.
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PMID:Rhinophyma in tuberous sclerosis. 15 61

Siblings are reported with severe mental retardation, spastic cerebral palsy and seizures; in addition they had progressive or intermittent jaundice and recurrent infections; they died at 3 and 4 years respectively. Neuropathological studies in one showed a small brain with an almost complete lack of myelin in cerebral white matter, brain stem, cerebellum and anterolateral parts of the spinal cord. The condition most likely represents a dysgenesis of myelin (dysmyelination), possibly due to an inability of oligodendrocytes to form myelin and/or metabolic defects in the process of myelination. This mental retardation condition is probably inherited as an autosomal recessive trait and may represent a special type of a primary CNS developmental defect.
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PMID:Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait? 83 46

In a group of 90 children with phenylketonuria diagnosed and treated late the authors studied the problem of seizures. They occurred in over 50% of children, in most of them they had the character of salaam seizures (72%). They were statistically significantly more frequent in children with more severe mental retardation. In the discussion on these observations the authors stated that the data obtained by them concerning the frequency of seizures (twice as frequent as in materials reported in the literature) were based on long-term observation of these children and not on one examination and they conform better to the actual incidence of these seizures. It is supposed that the presence of seizures is a prognostically unfavourable element. It is suggested also that these children should be given anticonvulsant treatment besides dietary treatment of phenylketonuria.
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PMID:[Seizures in phenylketonuria]. 88 2

A previously apparently undescribed "syndrome" is reported in which megalocornea and iris anomalies are accompanied by minor facial and skeletal anomalies, severe mental retardation, hypotonia, and seizures. The condition was found in 3 siblings of one family and in 4 sporadic cases; it is thought to be recessively inherited.
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PMID:Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited. 117 32

In this paper the authors describe three patients with trisomy of the short arm of chromosome 4 with special attention to the striking phenotypic changes with age. When they get older the round face with chubby cheeks, deeply-set eyes and broad and flat nasal root with a bulbous nose tip becomes triangular or even long. Postnatal growth retardation is pronounced with short neck and broad, short chest with hyperkyphosis. The moderate to severe mental retardation is associated with almost absence of speech development, severe behavioural problems and poor fine motor development with persisting hypertonia, stiff, unstable gait, joint contractures and seizures.
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PMID:Trisomy of the short arm of chromosome 4: the changing phenotype with age. 129 18

Tuberous sclerosis is an inheritable disease of varied manifestations. Hallmarks of the disease have historically been identified as infantile seizures, severe mental retardation, and facial growths. The facial lesions were formerly termed adenoma sebaceum, but are now known to be angiofibroma. We present a patient who was referred for management of large facial lesions complicated by intermittent hemorrhage. A combination of shave excision and dermabrasion led to a symptomatic and cosmetic improvement.
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PMID:Shave excision and dermabrasion for facial angiofibroma in tuberous sclerosis. 131 95

A new type of non-specific X linked mental retardation is described in a three generation family. The three affected males had severe mental retardation (IQ 20 to 30), mutism, growth failure, frequent infections, seizures, and the following minor anomalies: brachycephaly, frontal hair whorl, square face, large mouth, thick lips, and prognathism. There was not a characteristic facies. Normal laboratory studies on the proband included a karyotype with fragile X screening, skeletal survey, blood amino acid, urine organic acid, and HGPRT levels. Linkage analysis was performed with 10 X chromosome DNA probes of which probe DXS255 at chromosomal region Xp11.22 gave a maximal two point lod score of 2.10 if phase was inferred and 1.20 if it was not. Crossovers were shown with probes mapping to regions Xp22, Xp21, and Xq28. Comparison of these patients with 80 X linked causes of mental retardation, including 41 which might be classified as 'non-specific', showed no other disorders compatible with the phenotypic and linkage data.
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PMID:Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. 847 12

We report an autopsy case of tuberous sclerosis. A 19-year-old Japanese man had shown facial adenoma sebaceum, intractable convulsive seizures and severe mental retardation. Gross inspection of the brain showed a cortical tuber from the orbital frontal lobe to the rhinencephalon of the left side and a few subependymal nodules. Histological examination revealed many cortical tubers in the cerebral hemispheres, a few subependymal nodules with calcification and multifocal clusters of heterotopic cells in the white matter (white matter nodules). In these lesions, massive giant cells with abundant eosinophilic cytoplasm and without Nissl substances were found. Although the size and shape of the giant cells were variable, the majority of them were gemistcytic, ovoid or polygonal. Immunohistochemistry was employed in these lesions using antibodies against neurofilament protein (NFP), glial fibrillary acidic protein (GFAP), vimentin (VM) and myelin basic protein (MBP). In the cortical tuber, the majority of the giant cells were positive for both NFP and VM, but a few were positive for GFAP. All of them were negative for MBP. In the subependymal nodule and white matter nodule, the majority of the giant cells were positive for NFP, but a few were positive for VM, and none were positive for either GFAP and MBP. These findings suggest that the majority of the giant cells may be immature cells toward neuronal series and a few may be those toward astroglial series. These findings also indicate that the giant cells in the subependymal nodule and white matter nodule may be more differentiated than those in the cortical tuber. The nature of the giant cells in tuberous sclerosis is discussed.
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PMID:An autopsy case of tuberous sclerosis. Histological and immunohistochemical study. 145 92


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