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

Rett syndrome (RS) is characterized by progressive loss of intellectual functioning and fine and gross motor skills as well as development of stereotypic hand movement abnormalities, occurring after 6 to 18 months of normal development. Rett syndrome has been previously reported only in girls, but the possibility of the syndrome existing in male children cannot be currently excluded. Although the syndrome is thought to be relatively common, it was only described in the English literature 5 years ago. There is currently no marker for the syndrome; diagnosis is based on clinical criteria. The newly developed diagnostic criteria for RS are reviewed, with special attention given to the historical aspects of the diagnosis in the prenatal, perinatal, neonatal, and early childhood periods. Rett syndrome is characterized by a predictable, orderly progression of signs and symptoms. Four stages of RS have been described; each stage has special characteristics and offers different diagnostic challenges for the neurologist. Infantile autism is the most common incorrect diagnosis made for children with RS. The simultaneous regression of both motor and language skills, as well as the stereotypic hand movements, hyperventilation, bruxism, and seizures in early childhood are all typical in RS and help distinguish RS from infantile autism.
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PMID:The clinical recognition and differential diagnosis of Rett syndrome. 305 88

In the absence of any biological marker, Rett syndrome (RS) is defined by clinical criteria which have been proposed at the second Vienna conference on RS and patients who do not fulfill those criteria cannot be included. However, some patients partially fulfill the criteria but lack some of the essential characteristics. Seven such patients are reported. All patients were girls. Atypical manifestations included absence of a normal development during the first months of life (5 patients), absence of deterioration (1 patient), or presence of initial and intense seizure activity (2 patients). If such cases are indeed atypical RS, the spectrum of clinical manifestations will have to be broadened and deterioration of previously acquired skills may not be an essential requirement for its diagnosis. The exclusive occurrence of atypical and of typical cases in females suggests that both constitute a single morbid entity.
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PMID:Atypical forms of Rett syndrome. 308 80

Seven girls (age 5 to 10 years) with Rett syndrome were investigated extensively. In 6 patients elevations of blood pyruvate were found. Blood lactate levels were marginally elevated. Two patients had variably elevated blood glucose levels. Metabolic studies were otherwise normal apart from minimally elevated blood ammonia levels in 3 of 5 patients tested, 2 of whom were on valproic acid. All 7 patients had anticonvulsant resistant seizures. EEG changes included generalized slowing and multifocal spike wave discharges, and pseudo-periodic burst-suppression patterns during sleep. Respiratory monitoring revealed apneic episodes only during the waking record. Six patients were below the 5th centile for weight despite normal caloric intake. Treatment with ketogenic diets, using medium chain triglyceride (MCT) oil when possible, has improved seizure control in the 5 patients who could tolerate the diet. Slight behavioral and motor improvement has occurred in these 5 patients and 6 of 7 patients on high fat diets have gained weight. With a possible defect in carbohydrate metabolism and a difficult seizure disorder, use of a ketogenic diet is logical and appears to produce clinical benefit in patients with Rett Syndrome.
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PMID:Therapeutic effects of a ketogenic diet in Rett syndrome. 308 85

Postmortem human brain analyses have been performed to further evaluate pathogenetic aspects of the Rett syndrome. While there are no significant abnormalities with respect to amino acid concentrations in putamen, caudate nucleus, red nucleus and thalamus, the concentration of kynurenine is increased in putamen, caudate nucleus, gl. pallidus, raphe and amygdaloid n. In contrast, serotonin and its metabolite 5-hydroxyindole acetic acid are below normal levels. D2-receptor number is decreased and there is a significant drop in the concentration of the iron-binding protein ferritin. It can be concluded, that reduction of D2-receptors is due to loss of cholinergic and GABA-ergic cell bodies in the striatum or may be a response to iron deficiency. Low serotonergic and high kynurenergic activity may be of pathogenetic importance in the frequently observed cerebral seizures in Rett syndrome.
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PMID:Preliminary brain autopsy findings in progredient Rett syndrome. 308 91

We have studied an 8-year-old girl with ornithine transcarbamylase deficiency with many of the manifestations of Rett syndrome. She is profoundly mentally retarded and microcephalic after normal development in early childhood. Seizures, hyperventilation, ataxia, amimia, and "hand wringing" stereotypies are present. The distinguishing characteristic is the history of recurrent episodes of vomiting and hyperammonemic coma. This case points to the possible existence of genocopies of Rett syndrome.
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PMID:A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations. 308 94

We evaluated, at our institute, 70 females with Rett syndrome between 2 1/2 to 34 1/2 years old. This provided an opportunity of observing the natural history of this condition. The evolution of a subacute encephalopathy of very early onset, maximizing in the second year of life, with slow recovery and devastating sequelae, was recognized. The hyperorality, visual auditory and tactile agnosia with aphasia and seizures resembled symptoms described in human Kluver Bucy syndrome. Over interpretation of behavioral abnormalities as seizures was common. Scoliosis was not a necessary concomitant of age. A consistent biochemical or neurophysiological abnormality was not detectable in understanding the cause and pathogenesis of this disease process. Life span appears to be unaffected though life tables have not yet been established.
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PMID:Rett syndrome--natural history in 70 cases. 308 4

Rett syndrome (RS) is a condition apparently limited to females characterized by normal early development followed by the abrupt loss of acquired function and beginning autistic behavior in late infancy. Manifestations in RS include decelerating head growth, unusual "hand-writing" movements, gait apraxia, neuromuscular tone disturbance, and seizures. No biochemical, hematologic, cytologic, or cytogenetic procedures have been shown to confirm the diagnosis of RS. With the exception of one family with 2 affected half-sisters, all cases have been sporadic. Six profoundly retarded residents of Central Wisconsin Center have manifestations of RS. Three are microcephalic and 3 have head circumferences at or below the 10th centile. All have seizures or abnormal EEG findings and all were ascertained on the basis of characteristic hand movements. No case of precocious puberty was observed. Two patients had severe scoliosis which was surgically treated. Detailed neuropathologic examination should be sought for every case of RS. The development of clearly defined minimal diagnostic criteria and the establishment of an international registry are desirable.
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PMID:Rett syndrome at an institution for the developmentally disabled. 308 7

Clinical and EEG findings have been analysed in six patients with Rett syndrome with a mean follow-up of 3 years and 9 months. After reviewing the diagnostic criteria for inclusion, which are essentially clinical, we emphasize two aspects which have been shortly considered in the literature: a) epileptic seizures, b) peculiar differential characteristics between primary autism and the Rett syndrome behaviour. Moreover, we underline the importance of serial EEG poligraphic records for early diagnosis.
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PMID:[Rett syndrome: clinical aspects and EEG for an early diagnostic assessment]. 324 39

Nine girls with Rett syndrome had 22 electroencephalographic studies performed over 5 years. Nineteen walking tracings demonstrated moderate background slowing. Focal epileptiform activity was observed in 13 studies, 10 of which had bilateral independent foci. Spikes were invariably maximal in central regions, diphasic or triphasic, and of very short duration. In 3 patients, epileptiform activity preceded clinical seizures by up to 2 years. Two children had spontaneous hyperpnea preceding apnea during wakefulness with further background slowing. Video monitoring of 2 children revealed that episodic behavioral changes were not seizures. Ten of 12 sleep recordings had abnormal background activity with absent or rudimentary spindles. Normal activity occurred only in girls younger than 2 1/2 years of age. Epileptiform activity was markedly increased during sleep in 8 tracings in which both wakefulness and sleep were obtained. It was characterized by bilaterally independent and bisynchronous spike-and-wave activity, maximal in parasagittal areas. One patient had bursts of high-voltage slow-wave activity followed by attenuation. No apneic episodes were recorded during sleep. In Rett syndrome, electroencephalographic abnormalities include background slowing, centrally located short-duration spikes, and increased epileptiform activity during sleep. This activity commonly preceded clinical seizures in patients studied at initial presentation.
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PMID:EEG abnormalities aid diagnosis of Rett syndrome. 324 72

Recent progress from pooled clinical experience is reviewed. The approximate number of documented cases of Rett syndrome (RS) as of October 1986 was 1,100. Three sister pairs, 3 monozygotic twin pairs (both twin girls affected), 3 dizygotic twin pairs (one twin girl affected) are known. Genetics are discussed based on these and other known occurrences. Early seizure-onset variants have been reported in a dozen cases representing various countries. Approximately 20 incomplete RS related cases, also termed "formes frustes," are documented as of October 1986. An actual Swedish series of 66 classical RS, 4 "formes frustes," 2 early seizure-onset variants and 9 other clinically near related atypical cases is summarized. A suggested late stage IV spinal cord impairment is discussed, as well as the whole adult multifacetted complex neurological pattern. Gastrointestinal pathology is discussed with reference to possible generalized neuropeptide disturbances.
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PMID:Rett syndrome: epidemiology and nosology--progress in knowledge 1986--a conference communication. 332 95


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