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

Tuberous sclerosis is a rare congenital disorder with an incidence of 1 in 6000 births. The classic triad is seizure, mental deficiency, and angiofibromas. Orofacial manifestations include fibrous hyperplasia, hemangioma, bifid uvula, cleft lip and palate, macroglossia, high arched palate, and enamel defects. Benign tumors of the jaws including desmoplastic fibroma, calcifying odontogenic tumor, and odontogenic myxoma have been recently reported in tuberous sclerosis. This case report adds fibrolipomatous hamartoma of the mandible to this list.
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PMID:Fibrolipomatous hamartoma in a patient with tuberous sclerosis: report of a case. 1566 93

Focal cortical dysplasia (FCD) is a congenital disorder of neuronal migration that is increasingly recognized as a common cause of seizures in children, occurring in 20-30% of all surgically treated cases of epilepsy in the pediatric population. Advances in neuroimaging have contributed to recognition of FCD. We report 15 children (9 female, 6 male) with FCD and surgically treated intractable epilepsy. In 9 cases, a surgical strategy of anatomic (frameless stereotactic) grid placement and physiologic (electrocorticography) resection was employed. Postoperative MRI scans were obtained, the pathologic specimen was graded according to the Brannstrom system, and seizure outcome was defined using the Engel classification. There were no deaths and no permanent morbidity. After, on average, 4 years since treatment, 10 children are seizure free, 2 are 2A, 2 are 2B and 1 is 3A. Predictors of good outcome are an MRI-defined lesion and increased cortical disorganization (higher Brannstrom grade). Subtotal resection did not preclude a seizure-free outcome.
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PMID:Surgical treatment of epilepsy in children caused by focal cortical dysplasia. 1594 76

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

Aicardi syndrome is a congenital disorder characterized by severe psychomotor retardation, corpus callosum agenesis, chorioretinal lacunae, and early-onset infantile spasms. The prognosis is generally poor for children with the classical form. We report a peculiar case of Aicardi syndrome characterized by corpus callosum hypoplasia, brain malformations with subependymal heterotopias, extensive chorioretinal lacunae, seizures, and normal cognitive functions. Therefore, the clinical picture of the syndrome is broader than originally described. Cognitive disorders should not be considered inevitable and the prognosis not ineludibly poor.
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PMID:Aicardi syndrome with favorable outcome: case report and review. 1720 97

In an effort to shed light on the mechanism of hemiparetic stroke-like events experienced by patients with congenital disorder of glycosylation type Ia, we evaluated 3 children with this disorder by brain imaging studies and continuous electroencephalogram monitoring during such events. No evidence of ischemia or infarction was revealed on imaging studies and electrographic seizures or intermittent epileptiform activity was demonstrated on electrographic recordings. All 3 patients showed clinical and electrographic improvement after administration of antiepileptic medication. Epileptic phenomena can complicate the stroke-like events of patients with congenital disorder of glycosylation type Ia, and the cause of the hemiparesis may indeed be an active epileptic inhibitory process. As such, electroencephalogram monitoring is warranted, and treatment with anticonvulsant agents is indicated.
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PMID:Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia. 1730 46

We describe a new Type II congenital disorder of glycosylation (CDG-II) caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8. The patient has severe psychomotor retardation, seizures, failure to thrive and intolerance to wheat and dairy products. Analysis of serum transferrin and total serum N-glycans showed normal addition of one sialic acid, but severe deficiency in subsequent sialylation of mostly normal N-glycans. Patient fibroblasts were deficient in sialylation of both N- and O-glycans, and also showed slower brefeldin A (BFA)-induced disruption of the Golgi matrix, reminiscent of COG7-deficient cells. Patient fibroblasts completely lacked COG8 protein and had reduced levels and/or mislocalization of several other COG proteins. The patient had two COG8 mutations which severely truncated the protein and destabilized the COG complex. The first, IVS3 + 1G > A, altered the conserved splicing site of intron 3, and the second deleted two nucleotides (1687-1688 del TT) in exon 5, truncating the last 47 amino acids. Lentiviral-mediated complementation with normal COG8 corrected mislocalization of other COG proteins, normalized sialylation and restored normal BFA-induced Golgi disruption. We propose to call this new disorder CDG-IIh or CDG-II/COG8.
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PMID:COG8 deficiency causes new congenital disorder of glycosylation type IIh. 1733 80

We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impaired. Each is compound heterozygous for a novel point mutation and an already known mutation in the ALG3 gene that leads to the synthesis of a severely truncated oligosaccharide precursor for N-glycans. The defect is corrected by introduction of a normal ALG3 cDNA. CDG should be ruled out in all patients with severe seizures and failure to thrive. (c) 2007 Wiley-Liss, Inc.
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PMID:CDG-Id in two siblings with partially different phenotypes. 1755 33

Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and O-linked glycosylation was described in children with congenital cutis laxa in association with severe central nervous system involvement, brain migration defects, seizures and hearing loss. We report on seven additional patients with similar clinical features in combination with congenital disorder of glycosylation type IIx. On the basis of phenotype in 10 patients, we define an autosomal recessive cutis laxa syndrome. The patients have a complex phenotype of neonatal cutis laxa, transient feeding intolerance, late closure of the fontanel, characteristic facial features including down-slanting palpebral fissures, short nose and small mouth, and developmental delay. There is a variable degree of the central nervous system involvement and variable systemic presentation. The biochemical analysis using transferrin isoelectric focusing gives false negative results in some of the youngest patients. Analysis of the apolipoprotein C-III isoelectric focusing, however, is diagnostic in all cases.
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PMID:Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. 1807 5

Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically established subtypes (CDG Ia to CDG Im), and a high number of biochemically unresolved cases (CDG Ix). Further diagnostic effort and prognosis counselling are very challenging in these children. In the current study, we reviewed the clinical records of 10 CDG Ix patients and compared the data with 13 CDG Ix patients published in the literature in search for specific symptoms to create clinical subgroups. The most frequent findings were rather nonspecific, including developmental delay and axial hypotonia. Several features were found that are uncommon in CDG syndrome, such as elevated creatine kinase or arthrogryposis. Distinct ophthalmological abnormalities were observed including optic nerve atrophy, cataract and glaucoma. Two subgroups could be established: one with a pure neurological presentation and the other with a neurological-multivisceral form. The first group had a significantly better prognosis. The unique presentation of microcephaly, seizures, ascites, hepatomegaly, nephrotic syndrome and severe developmental delay was observed in one child diagnosed with CDG Ik. Establishing clinical subgroups and increasing the number of patients within the subgroups may lead the way towards the genetic defect in children with a so far unsolved type of the congenital disorders of glycosylation. Raising awareness for less common, non-CDG specific clinical features such as congenital joint contractures, movement disorders or ophthalmological anomalies will encourage clinicians to think of CDG in its more unusual presentation. Clinical grouping also helps to determine the prognosis and provide better counselling for the families.
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PMID:Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. 1850 May 72

Sturge-Weber syndrome is a rare congenital disorder. Seizures, stroke-like episodes, glaucoma, headache, and developmental delay are frequently associated features. An Internet-based questionnaire was designed to assess the frequency of use, effectiveness, and safety of aspirin treatment in Sturge-Weber syndrome. Thirty-four of 98 subjects who completed the survey reported having used aspirin. The mean number of reported stroke-like episodes was reduced from 1.1 to 0.3 per month in the year after starting aspirin (n = 26, p = .014). The median number of seizures was significantly reduced from 3 to 1 episodes per month (n = 21, p = .002). Thirty-nine percent of subjects reported a history of complications (predominantly increased bruising or gum/nose bleeding) while on aspirin; however, none reported discontinuing aspirin because of side effects. Our study showed a significant relative reduction in both self-reported seizure frequency and stroke-like episodes after starting aspirin. It also suggests that low-dose aspirin can be safely used in these patients.
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PMID:Survey of aspirin use in Sturge-Weber syndrome. 2142 42


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