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

Rett syndrome is a progressive encephalopathy observed only in girls, who are apparently normal until 6 to 12 months of age. It is characterized by autism, dementia, ataxia, stereotypic hand movements, hyperreflexia, spasticity, and seizures. Eight of 10 females with Rett syndrome evaluated at the Alfred I. duPont Institute have C-shaped neuromuscular curves averaging 29 degrees (range 22-48 degrees). Curve progression was seen in all eight patients and occurred despite bracing in four, averaging 21 degrees (range 12-31 degrees). Five patients, two of whom were braced, have undergone posterior spinal fusion with segmental instrumentation for curves ranging in size from 49 to 105 degrees (average 67 degrees).
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PMID:Scoliosis in Rett syndrome. 335 Sep 46

Parents of 63 North American girls with Rett syndrome filled out retrospective questionnaires in a project of the International Rett Syndrome Association, a parent group. No consistent pattern was revealed of possible etiological factors related to environmental insults; however, additional information gathered supported a genetic etiology. The survey included one pair of identical twins and one child with consanguineous parents. There were 46 male sibs and 34 female sibs. These data weigh against any theory relating etiology to a gene on the X chromosome which is lethal to males in utero. Figures were gathered on a number of clinical items. These were: onset of symptoms between 6 and 18 months of age, 83%; autistic withdrawal, 73%; never walked independently, 23%; hyperventilators with abdominal swelling, 63%; night laughter, 83%. The average age of walking of those who walked was 19 months and the average onset of seizure disorders was between 3 1/2 and 4 years of age. This paper ends by discussing the limitations of a parent questionnaire.
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PMID:Rett syndrome: a survey of North American patients. 339 38

Rett syndrome, named after Rett's first description in 1966, evolves typically in 3 stages: after normal early psychomotor development up to the age of 6-24 months, stagnation and regression occur over a few months resulting in severe dementia, loss of speech, of social response and of purposeful hand use. This is accompanied by particular stereotyped hand movements and usually also by deceleration of head growth. The further course is often stable for a prolonged period, or only slowly progressive. Common features are seizures, episodic hyperpnea, scoliosis, spasticity and vasomotor disturbances of lower limbs. Rett syndrome has been observed only in girls, all cases (with 2 exceptions) being sporadic. This is probably explained by a X-linked dominant new mutation lethal in males. The pathogenesis is still unknown: no consistent metabolic, morphologic or neuroradiologic abnormalities have been found. According to some epidemiologic investigations, Rett syndrome affects about 1:15,000 girls and is thus responsible for a considerable proportion of severely retarded girls. Within one year the authors have retrospectively diagnosed 15 cases, which is assumed to represent only about a third of patients in Switzerland.
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PMID:[Rett syndrome: a progressive neurological syndrome in girls]. 370 8

We report 15 cases of Rett syndrome, a slowly progressive disorder that occurs only in girls and is characterized by early deterioration of higher brain function with dementia and autistic behavior, loss of purposeful use of the hands, and deceleration of head growth. Epilepsy, with minor motor seizures being the predominant type, has its onset between 2 and 4 years of age in the majority of cases. Additional features include an extrapyramidal disorder with dystonia and choreoathetosis, and lactic acidemia. A precise biochemical marker of this disorder has not been identified.
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PMID:Rett syndrome. A commonly overlooked progressive encephalopathy in girls. 372 2

Two sporadic cases of tuberous sclerosis presented with flexion spasms in a male and early intractable seizures evolving into a Lennox-Gastaut syndrome in a female. Early hypotonia and lack of substantial motor development are key features of the Rett syndrome, more easily overlooked than hand-wringing. Clumsy self-feeding and immature ambulation were the highest achievements in the second case now aged 36 years. Immaturity rather than degeneration, dementia, or assumed tissue destruction, is the capital feature of many disorders of early brain development leading to profound motor as well as mental retardation. Studying unusual clinical combinations is more likely to shed light on the underlying etiology than focusing on procrustean syndrome definitions.
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PMID:Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development. 751 Sep 33

A model for the clinical delineation of atypical cases of Rett syndrome is presented. It is based on the presence, at age > or = 10 years, of combined clusters of at least 3 of 6 primary criteria and at least 5 of 11 supportive manifestations appearing through childhood with advancing age. The model was applied to 16 mentally retarded females, aged 11-47 years (median: 23) who were considered to manifest atypical variants of the syndrome (8 formes frustes, 6 late regression, 2 congenital variants). Two of the 16 patients had an early seizure history as the initial abnormality. In parallel, the number of supportive manifestations in a series of 41 females over 10 years of age with classic Rett syndrome are given. The differentiating power was tested on 8 patients with a chromosome-verified Angelman syndrome. It is concluded that the model applied here has the capacity to identify and distinguish Rett syndrome variants of different types, to sift out other developmental disorders in routine clinical work, and to have potential as a useful research tool.
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PMID:Rett variants: a suggested model for inclusion criteria. 798 94

An elevated CSF glutamate level has recently been reported in Rett syndrome. Because the anticonvulsant effect of Lamotrigine is probably due to inhibition of glutamate release, this drug was given as an add-on drug to 4 girls with Rett syndrome. All patients responded with a seizure reduction of 50% or more and an improved well-being. A controlled study at the early stages of the syndrome could be interesting.
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PMID:Lamotrigine in Rett syndrome. 813 81

We analyzed lactate, pyruvate, and citric acid cycle intermediates in cerebrospinal fluid by high-performance liquid chromatography in Rett syndrome patients (n = 27; mean age, 5.7 +/- 3.4 years) and age-matched female controls (n = 12; mean age, 7.0 +/- 3.3 years). The lactate, pyruvate, alpha-ketoglutarate, and malate were significantly elevated in Rett syndrome compared to the controls. The lactate/pyruvate ratio was not different. On the other hand, cerebrospinal fluid citrate, cis-aconitate, succinate, fumarate, and oxaloacetate were not significantly different in Rett syndrome patients than in the controls. We also evaluated the correlation between these acids and clinical symptoms and signs, including clinical stage, seizures medications (anticonvulsants or naltrexone), developmental quotient, self-abuse, and hyperventilation or apnea or both. The concentrations of all these acids did not differ significantly with clinical stage. Lactate elevation significantly correlated with apnea. Lactate and pyruvate elevation significantly correlated with hyperventilation or with both breathing abnormalities. Our observations in this sample of patients with Rett syndrome led us to speculate that patients with the Rett syndrome may have defective carbohydrate metabolism. Elevated mitochondrial reduced nicotinamide-adenine dinucleotide-linked substrates suggest that reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase may be deficient in the brain in Rett syndrome patients.
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PMID:Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome. 815 Oct 77

Rett syndrome is a pediatric neurological disorder of unknown etiology defined by the presence of severe neurodevelopment decline, acquired microcephaly, dementia, abnormalities of movement, autistic behavior, and seizures in young female children. In this study, the neuroanatomy of 11 females with Rett syndrome and 15 age- and gender-matched control subjects was investigated in vivo with quantitative neuroimaging techniques. Compared to control subjects, the patients with Rett syndrome were found to have significantly reduced cerebral volume; evidence of greater loss of gray matter in comparison to white matter; regional variation in cortical gray matter, with the frontal regions showing the largest decrease; and reduced volume of the caudate nucleus and midbrain, even when taking into account general reduction in the size of the brain. In addition, there was no evidence of an ongoing degenerative process in this sample of girls with Rett syndrome. The consistency of these data with results from neuropathological investigations points to the need for continued quantitative neuroimaging studies of children with this condition. In particular, research employing serial longitudinal scans of very young children manifesting early signs of the clinical syndrome holds promise for helping to elucidate the neuropathological pathways leading to the debilitating clinical manifestations of Rett syndrome.
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PMID:Neuroanatomy of Rett syndrome: a volumetric imaging study. 833 47

Familial cases of Rett syndrome (RS) are rare. No significant differences have been reported in the clinical courses of concordant monozygotic twins with RS. We present the variability of clinical expression in two Japanese sisters with classic RS. The younger sister, currently 6 years and 6 months old, never stood or walked alone, showed severe spasticity, growth retardation, and microcephaly and developed sleep-wake rhythm disturbance from age 4 years and seizures from age 5 years. The elder, currently 7 years and 9 months old, walked alone and had mild spasticity, no growth retardation, normal sleep-wakefulness rhythm and no seizures. RS is most likely to be transmitted as an X-linked dominant, male-lethal (XDML) disorder, although this is still contested. If RS is an XDML disorder, lyonization may account for variability of expression in the sisters.
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PMID:Classical Rett syndrome in sisters: variability of clinical expression. 940 98


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