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

A patients with seizures, Von Willebrand disease, and symptoms of Turner syndrome was a chromosomal mosaic. In blood culture (1974), 56% of the cells were 45, X 33% 46, XXp+ and 11% 47,XXp + Xp +; in the skin, no cells with 47 chromosomes were found. Presumably the Xp + chromosome arose through a break in the Q-banded dark region next to the centromere on Xp to which an Xq had been attached. The abnormal X was late-labeling and formed a larger than normal Barr body. Of the chromatin-positive fibroblasts, 18.2% showed bipartite Barr bodies, which agrees with the hypothesis that the X inactivation center lies on the proximal part of the Xq. On the basis of the structure and behavior of the bipartite bodies in the present patient, as compared to those formed by other chromosomes with two presumed inactivation centers, we propose that the dark region next to the centromere of Xp remains active in the inactive X. In cells with 45,X and 46,XY, this region has the same relative size, whereas it is significantly shorter in the active X of three females, including the present patient, with one abnormal X. We propose that this region on the active X reveals different states of activity, as reflected in its length, depending on how many other X chromosomes are in the cell.
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PMID:Structure and Barr body formation of an Xp + chromosome with two inactivation centers. 29 80

Since some patients with Ullrich-Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high-risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All of the six (100%) with a small ring X were educable (EMI) or trainable mentally impaired (TMI) with more severe delay than expected in UTS. Among the 184 with other X abnormalities, only 6 had similar delays (2 from postnatal catastrophes), for a frequency of 3.3% mental retardation among those without a small ring X; only 2.2% of these had unexplained mental retardation. Polymerase chain reaction studies showed no Y-derived material in the 2 patients who were evaluated, and in situ hybridization confirmed X origin of the ring in the 6 subjects who were evaluated. We describe the phenotype of the 6 individuals with a small ring X, and an additional 2 patients with a small ring X who were identified outside the survey. The subjects with a small ring X comprised a clinically distinct subgroup which had EMI/TMI and shorter stature than expected in UTS. Seizures and a head circumference less than 10th centile were observed in half of the patients with a small ring X, and strabismus, epicanthus, and single palmar creases were present in more than half. A "triangular" face in childhood, pigmentary dysplasia, sacral dimple, and heart defects were also common. Neck webbing appeared to be less frequent than in 45,X. We hypothesize that the high risk of mental retardation in this form of the UTS results from lack of lyonization of the ring X due to loss of the X inactivation center. Excluding those with a small ring X, mental retardation is not significantly increased in patients with UTS.
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PMID:Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. 141 51

We have identified three examples of female Wistar rats exhibiting the tremor and seizures characteristic of the X-linked myelin deficiency (md) mutation, which is ordinarily seen only in males. Cytogenetic study of two of these animals has shown them to have 41 chromosomes instead of the normal 42. The missing chromosome was identified as an X chromosome by G-banding analysis. These animals thus have an XO genotype comparable to that in Turner's syndrome. Anatomically, one of the animals, which was studied in detail, showed no abnormality of the uterus, and the ovaries, although somewhat smaller than normal, were histologically indistinguishable from those in a normal female rat. No evidence of endocardial fibroelastosis was detected, nor was there any anomaly of the aorta. The myelin deficiency in the central nervous system was comparable to that in hemizygous mutant male rats. XO monosomy in the Wistar rat thus has little effect on phenotype and is more comparable to that in mice than to Turner's syndrome in man. The myelin-deficient rat is useful for studies of X-chromosome monosomy since XO females can readily be identified by the neurological syndrome characteristic of the md mutation.
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PMID:X-chromosome monosomy in the myelin-deficient rat mutant. 232 8

In a 23 year old female patient, hospitalized at the internal ward for precollapse condition in tachyarrhythmia seizure with signs of the Turner's syndrome and a corresponding chromosomal finding, a radiographic examination of thorax revealed, beside a spine deformity with a marked scoliosis, a spindle-like aneurysmatic dilatation of aortic arc. The duplication of its contour indicated suspected beginning dissection. The further course did not confirm it, though. The possibility of excluding atherosclerotic and luetic etiology of the aneurysm makes it possible to consider the Erdheim's cystic medionecrosis of aorta, which accompanies more frequently the Marfan's syndrome, whereas in the Turner's syndrome it has been reported exceptionally.
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PMID:[Aortic aneurysm in Turner's syndrome]. 279 Nov 18

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

A 20-month-old infant with Turner syndrome presented with opsoclonus-myoclonus and tonic pupils in association with an abdominal neuroblastoma. Despite complete removal of the tumor, the child developed progressive hearing loss, areflexia, and seizures. Immunohistochemical and Western blot studies of serum and cerebrospinal fluid revealed the presence of anti-Hu antineuronal antibody, which cross-reacted with areas of the patient's tumor. Treatment with intravenous immunoglobulin coincided with the resolution of opsoclonus-myoclonus and the cessation of new neurologic symptoms. This case provides direct support for the autoimmune basis of paraneoplastic symptoms associated with neuroblastoma and suggests that treatment with intravenous immunoglobulin may be of value.
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PMID:Anti-Hu antibody in a neuroblastoma-associated paraneoplastic syndrome. 806 57

The prevalence of Noonan syndrome has been estimated at between 1 out of 1000 and 1 out of 2500 live births; it is often confused with Turner syndrome because the two conditions display a common phenotype. Even if Noonan syndrome is typically associated with congenital heart diseases, prognosis is generally good. We describe the case of a female patient, deaf from infancy, in whom the presence of obstructive cardiomyopathy had been previously demonstrated angiographically at 29 years of age. A diagnosis of Turner syndrome had been made on the basis of her physical features. One year later she began to complain of accessional headache with nausea; seizures occurred at 48 years of age. The patient suddenly died during a hospital stay for investigation of these symptoms. Autopsy evidenced multiple cerebral hemorrhages due to vascular anomalies. She had normal female genitalia. This case demonstrates that Noonan syndrome is still misdiagnosed, and that it may have various clinical symptoms. In particular, it underscores the opportunity of carrying out systematic research on cerebrovascular abnormalities in these patients because they are potentially fatal.
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PMID:[Noonan's syndrome associated with cerebral hemorrhage. Report of a case]. 1168 53

We report an 11-year-old girl with Turner syndrome with 45, X/46, X, mar (X) who had mental retardation. EEG showed remarkable provocation of paroxysmal activity by photic stimulation. Diffuse irregular poly-spike and wave bursts were elicited by photic stimuli, without accompanying by clinical seizure.
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PMID:[Photosensitivity in electroencephalogram of a child with 45, X/46, X, mar (X) Turner Syndrome]. 1275 57

Turner's syndrome (TS), resulting from deletion of one X chromosome in women, is associated with cerebral development abnormalities, particularly in the temporal lobes. Symptomatic epilepsy is described only in cases with extensive malformations. Here, we report the first case of bilateral temporal epilepsy without macroscopic cerebral malformation in a woman with TS mosaicism. Bitemporal dysfunction was confirmed by the ictal and interictal EEG, PET, MR-spectroscopy and the neuropsychological examination, other causes than TS mosaicism were excluded. In rare cases, TS mosaicism may underlie non-lesional temporal lobe epilepsy, probably in relation to microanatomic structural and functional cerebral abnormalities. Further studies are needed to determine the frequency of this association.
Seizure 2007 Apr
PMID:Bilateral temporal lobe epilepsy in a patient with Turner syndrome mosaicism. 1718 61

The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here.
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PMID:Advances in the treatment of fragile X syndrome. 1911 5


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