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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of epileptic nystagmus (EN) are described. The first patient had no history of seizures and experienced attacks of EN associated with oscillopsia and followed by horizontal diplopia and esotropia. These episodes could be triggered by certain visual stimuli and ocular pressure. The second patient had a history of generalized tonic-clonic seizures. He displayed episodes of EN that changed direction in the course of the attacks simultaneously with a shift of the EEG discharge from one occipital region to the other. Cortical blindness followed postictally. On recovery from the postictal state, both patients were neurologically normal. With standard electrodes, the EEG seizures associated with EN involved the occipital, posterotemporal, and parietal areas of the scalp contralateral to the fast phase of the nystagmus. In the first patient, use of supplementary scalp electrodes further localized the seizures to an anterior occipital site intermediate between standard occipital and posterotemporal electrodes. Thirty-six previously reported cases of EN were associated with partial seizures. Horizontal EN most commonly results from seizure activity involving the occipital cortex, although participation of adjoining portions of the parietal and temporal cortexes is possible.
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PMID:Epileptic nystagmus. 174 65

Charts of all infantile esotropes who received their primary surgical procedure at the North Carolina Memorial Hospital, between February 1978 and June 1984 were reviewed. Neurologic problems (general and ocular) were identified in 29 of the 47 patients (61.7%) followed a minimum three months (mean = 25.0 +/- 2.9 mos). Frequent general neurologic problems were prematurity, hydrocephalus, mental retardation, cerebral palsy, meningomyelocele, intraventricular hemorrhage, and seizures (neonatal and/or postnatal). Abducens nerve palsy was the most common ocular neurologic impairment. Neurologic impaired esotropes were older (mean = 31.9 +/- 3.8 mos) than the "normal" group (mean = 17.0 +/- 3.3 mos) at the time of surgery. Recession/resection procedures were performed on 13 (44.8%) of the neurologically impaired and nine (50.0%) of the normal esotropes. Bimedial recessions were employed on 12 (41.4%) of the patients with neurologic problems and seven (38.8%) of the normal esotropes. Unilateral medial recessions and/or inferior oblique recessions were performed on six patients. At last follow-up, orthophoria (+/- 10 delta) was present in 16 (55.2%) neurologically impaired patients and 15 (83.3%) normal esotropes (p less than 0.05 by the normal deviate (z) test). Seven (24.1%) neurologically impaired patients had residual esotropia, while consecutive exotropia was present in six (20.7%) patients. Among normal esotropes, residual esotropia was found in one patient and consecutive exotropia in two (11.1%) patients. DVD's occurred in nine patients while four subjects developed a postoperative accommodative component.
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PMID:Infantile esotropia: results in the neurologic impaired and "normal" child at NCMH (six years). 395 Aug 44

Five children had bilateral optic nerve hypoplasia, absent septum pellucidum, and hypopituitarism. Absence of the septum pellucidum was shown by computed axial tomography. All of the children were first-born. One of the children was definitely not mentally retarded and one at age 7 months was developing normally. All of the children had severe visual impairment and nystagmus. Pupillary responses varied. Ocular deviations included one with exotropia and three with esotropia. The extent of pituitary hormone deficiency varied. One child was symptomatic from birth, having severe hypoglycemia and seizures. Two children had prolonged neonatal jaundice. One unusual case had growth hormone deficiency with a normal growth curve. Another child with diabetes insipidus had dehydration and polyuria without polydipsia.
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PMID:Optic nerve hypoplasia associated with absent septum pellucidum and hypopituitarism. 735 76

Seven children had congenitally small cerebella. Perinatal asphyxia was not a factor. Clinical signs in infancy were generalized muscular hypotonia, delayed development, truncal titubation, and intention tremor. Most had fixation nystagmus and esotropia. Three had seizures and an abnormal EEG. Pneumoencephalography in each case revealed a small cerebellum with prominent folia, large fourth ventricle, wide vallecula, large cisterna magna, and normal lateral and third ventricles. A computerized tomography scan in one case showed similar findings. One patient had an absent corpus callosum. One patient died at 2 1/2 years. The cerebellar hemispheres and vermis were small. Granular cells were absent throughout. Purkinje's cells were preserved, but had dendritic swellings with radiating fibrils. Cerebellar, pontine, and inferior olivary nuclei showed mild neuronal loss. The clinical and pathologic findings resemble those of animal models of cerebellar hypoplasia produced by fetal exposure to certain viruses, toxins, or repeated low doses of radiation. Cerebellar hypoplasia is a clinical syndrome of several causes, but with many symptoms and signs in common.
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PMID:Human cerebellar hypoplasia: a syndrome of diverse causes. 738 51

The prognosis for 45,X/46,XX mosaicism diagnosed prenatally has yet to be established. We report our experience with 12 patients in whom prenatal diagnosis of 45,X/46,XX mosaicism was detected by amniocentesis for advanced maternal age or decreased maternal serum alpha-feto protein and compared them with 41 45,X/46,XX patients diagnosed postnatally. The girls in the prenatal group range in age from 3 mo to 10 years. All have had normal linear growth. Four had structural anomalies including: ASD (n = 1); ptosis and esotropia (n = 1); labial fusion (n = 1); and urogenital sinus, dysplastic kidneys, and hydrometrocolpos (n = 1). Gonadotropins were measured in seven; one had elevated luteinizing hormone/FSH at 3 mo of age. One has developmental delay and seizures as well as ophthalmologic abnormalities. None would have warranted karyotyping for clinical suspicion of Turner syndrome. The prevalence of 45,X/46,XX mosaicism is 10-fold higher among amniocenteses than in series of postnatally diagnosed individuals with Turner syndrome, which suggests that most individuals with this karyotype escape detection and that an ascertainment bias exists toward those with clinically evident abnormalities. The phenomenon of a milder phenotype for the prenatal group is similar to that observed for 45,X/46,XY diagnosed prenatally. Prenatal counseling for 45,X/46,XX in the absence of such ultrasound abnormalities as hydrops fetalis should take into account the expectation of a milder phenotype (except, possibly, with respect to developmental delay) than that of patients ascertained postnatally. The same does not hold true for 45,x diagnosed prenatally.
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PMID:Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. 766 95

Polymicrogyria is a cerebral cortical malformation that is grossly characterized by excessive cortical folding and microscopically characterized by abnormal cortical layering. Although polymicrogyria appears to have one or more genetic causes, no polymicrogyria loci have been identified. Here we describe the clinical and radiographic features of a new genetic form of polymicrogyria and localize the responsible gene. We studied two consanguineous Palestinian pedigrees with an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), using linkage analysis. Five affected children had moderate-to-severe mental retardation, developmental delay, and esotropia, and four of the five affected children developed seizures. Brain magnetic-resonance imaging revealed polymicrogyria that was most prominent in the frontal and parietal lobes but involved other cortical areas as well. A genomewide linkage screen revealed a single locus that was identical by descent in affected children in both families and showed a single disease-associated haplotype, suggesting a common founder mutation. The locus for BFPP maps to chromosome 16q12.2-21, with a minimal interval of 17 cM. For D16S514, the maximal pooled two-point LOD score was 3.98, and the maximal multipoint LOD score was 4.57. This study provides the first genetic evidence that BFPP is an autosomal recessive disorder and serves as a starting point for the identification of the responsible gene.
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PMID:An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. 1184 8

X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to 3-beta-hydroxysteroid-delta8,delta7-isomerase deficiency caused by mutations in the emopamil binding protein (EBP) gene. A 2.5-year-old Caucasian male was followed from the age of 6 weeks and noted to have significant developmental delay, hypotonia, seizures, and patchy hypopigmentation. Multiple congenital anomalies included a unilateral cataract, esotropia, crossed renal ectopia, stenotic ear canals, and failure to thrive, requiring G-tube placement. Multiple minor anomalies and ptosis were noted. No skeletal asymmetry or chondrodysplasia punctata were noted on skeletal survey at 6 weeks and 13 months. An extensive genetic work-up including cholesterol (126-176 mg/dl) and 7-dehydrocholesterol was unrevealing. However, the levels of 8(9)-cholestenol and 8-dehydrocholesterol were mildly increased in plasma, which was confirmed in cultured fibroblasts. This prompted molecular analysis of the EBP gene, which revealed a novel hemizygous (nonmosaic) mutation in exon 2 (L18P). Two restriction digests were developed that confirmed this mutation in skin fibroblasts, blood, and buccal cells (all nonmosaic). We determined that the patient's mother (adopted) also has the L18P mutation enabling prenatal diagnosis of a normal male fetus. She has normal stature, no asymmetry, no cataracts at this time, and has a patch of hyperpigmentation on her chest best visualized on Woods lamp examination, characteristic of CDPX2. The mild maternal phenotype has been described previously. However, this nonmosaic missense mutation has resulted in a severe phenotype in her surviving son.
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PMID:Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. 1536 6

Pachygyria is a cortical malformation that results from the abnormal migration of neurons. Regions of the brain with pachygyria have an abnormally thick cortex that lacks normal folding and has deficient layering. We describe three siblings, born to nonconsanguineous Mexican parents, who have bilateral frontotemporal pachygyria without polymicrogyria. The pachygyria is accompanied by moderate mental retardation, esotropia, and either hypertelorism or telecanthus. They are otherwise morphologically normal and do not have microcephaly. Two experienced a single seizure in infancy. The characteristic phenotype present in this family suggests a new genetic syndrome that is likely inherited as an autosomal recessive trait.
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PMID:Autosomal recessive frontotemporal pachygyria. 1470 94

Encephalopathy has been demonstrated to be associated with respiratory syncytial virus bronchiolitis. In this study, the data on all patients less than 14 years of age hospitalized with respiratory syncytial virus bronchiolitis over the past 4 years was reviewed. Patients who had concomitant diagnoses consistent with neurologic disease underwent detailed chart review. There were 964 patients (age 0.1 to 13.6 years) with a diagnosis of respiratory syncytial virus bronchiolitis. Thirty-six of these patients had concurrent neurologic diagnoses. Twenty-four patients were excluded because of preexistent neurologic disorders, probable simple febrile seizures, or a history of epilepsy. Twelve respiratory syncytial virus-positive patients had definite neurologic complications without another recognized cause. Seven of these patients had seizures (predominantly generalized tonic-clonic and one with status epilepticus), three had generalized encephalopathy (marked hypotonia and decreased responsiveness) of whom two also developed esotropia. Two patients developed isolated esotropia. There was an incidence of neurologic complications of 1.2% (0.7% seizures) in a total of 964 patients with respiratory syncytial virus bronchiolitis. This percentage does not include presumed simple febrile seizures or exacerbations of preexisting seizure disorder (further 1.3%). Neurologic complications occur with respiratory syncytial virus bronchiolitis, and physicians and other caregivers should be aware of this entity as well as the favorable prognosis.
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PMID:Neurologic complications associated with respiratory syncytial virus. 1586 30

We describe the second case of congenital disorder of glycosylation type IL (CDG-IL) caused by deficiency of the ALG9 a1,2 mannosyltransferase enzyme. The female infant's features included psychomotor retardation, seizures, hypotonia, diffuse brain atrophy with delayed myelination, failure to thrive, pericardial effusion, cystic renal disease, hepatosplenomegaly, esotropia, and inverted nipples. Lipodystrophy and dysmorphic facial features were absent. Magnetic resonance imaging of the brain showed volume loss in the cerebral hemispheres and cerebellum and delayed myelination. Laboratory investigations revealed low levels of multiple serum proteins including antithrombin III, factor XI, and cholesterol. Hypoglycosylation was confirmed by the typical CDG type 1 pattern of serum transferrin analyzed by isoelectric focusing. A defect in the ALG9 enzyme was suggested by the accumulation of the DolPP-GlcNAc2Man6 and DolPP-GlcNAc2Man8 in the patient's fibroblasts and confirmed by mutation analysis: the patient is homozygous for the ALG9 mutation p.Y286C. The causal effect of the mutation was shown by complementation assays in alg9 deficient yeast cells. The child described here further delineates the clinical spectrum of CDG-IL and confirms the significant clinical overlap amongst CDG subtypes.
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PMID:CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. 1594 70


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