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

The long-term electroencephalographical observations were documented during the course of the Rett syndrome in 8 patients. The abnormal EEG findings changed with age and the clinical stage. In the premonitory stage (birth-1.5 years of age), EEG seemed to be normal. In the acute exacerbation stage (1.5-5 years old), occipital dominant alpha wave-like activity was characteristic and persisted for a few years, but it disappeared afterwards along with the seizure activity. At around 4 years of age, when the whole spectrum of symptoms manifested, the EEG background activity in the waking stage showed higher amplitude, lower frequency and more irregular than normal. Sleep spindles were hardly observed, while frequent seizure activity was found on sleep EEG. Before the onset of epileptic attacks, paroxysmal discharges, such as diffuse spike-and-wave complexes, were noted during sleep recordings. In the chronic stage (after age 6), a monotonous theta rhythm (MTR), which was not influenced by either opening or closing of the eyes but attenuated only by a big noise or strong pain stimuli, characteristically dominated the waking tracing. The MTR was generalized over both hemispheres. After age 20, the MTR tended to be more localized to the centro-parietal area. This suggests that a reduction in responsiveness to visual and other stimuli occurs in this disease, which may be attributable to a dysfunction of the reticular activating system in the brainstem.
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PMID:Longitudinal observation of electroencephalograms in the Rett syndrome. 261 64

Rett syndrome is a recently discovered, progressive neurological disorder that occurs exclusively in females early in life. Females with this rare and often misdiagnosed clinical entity have unusual but distinctive oral/digital habits. Dentists aware of Rett syndrome and its distinct manifestations will be able to aid in early diagnosis and treatment of those afflicted. A case report of a 4-year, 3-month-old white female with Rett syndrome and review of pertinent literature are presented. The previously reported oral/digital habits and oral manifestations of Rett syndrome are listed along with other unreported oral findings. Many of these oral manifestations are not unique to Rett syndrome. There is a likelihood that they may be related to trauma secondary to the excessive oral/digital habits, poor gait, and seizure activity.
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PMID:Rett syndrome--a rare and often misdiagnosed syndrome: case report. 266 2

Rett syndrome is an increasingly recognized progressive disorder in females, commencing in infancy and characterized by autistic behavior, gait ataxia, stereotyped movements, seizures and generalized growth and mental retardation, possibly associated with disorders of central biogenic amine synthesis. The gene locus and pathogenesis of Rett syndrome are unknown. Autopsy studies in nine girls dying between 4 and 17 years, and sural nerve and muscle biopsies from two girls aged 3 and 17 years showed: (1) diffuse cortical atrophy/micrencephaly, with a decrease in brain weight by 12% to 34% of age-matched controls, apparently related to the duration of the disorder; (2) mild diffuse cortical atrophy with increased amounts of neuronal lipofuscin and occasional mild gliosis, but without signs of a storage disorder; (3) underpigmentation of the zona compacta nigrae, which showed fewer well-pigmented neurons for age and fewer melanin granules per neuron, while total numbers of nigral neurons and the substructure of neuromelanin were normal for age. No pathological changes were seen in other transmitter-specific brain stem nuclei; (4) immunoreactivity for tyrosine hydroxylase was slightly reduced in nigral and hypothalamic neurons, and the pituitary gland showed decreased immunoreaction for prolactin and growth hormone; (5) ultrastructurally, in frontal cortex and caudate nucleus, isolated abnormal neurites and reactive or degenerative axonal swellings were seen; the latter are possibly related to the nigral changes, suggesting some dysfunction of the dopaminergic nigrostriatal system, which is supported by neurochemical data; (6) preliminary biochemical studies revealed increased beta-endorphines in thalamus and cerebellum; (7) peripheral nerves demonstrated increase in small fibers without demyelination and increased numbers of neurofilaments in axons, suggesting distal axonopathy, while skeletal muscle showed alterations in the sarcoplasmic reticulum with circular profiles in the Z-filaments. These nonspecific changes may be interpreted as early signs of denervation. The variety of lesions in the central, neuroendocrine and peripheral neuromuscular systems in Rett syndrome are discussed with regard to their clinical and biochemical significance.
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PMID:Neuropathology of Rett syndrome. 290 May 87

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


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