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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the Rett syndrome (RS), a progressive encephalopathy affecting girls, deficient neurotransmitter synthesis has been suggested as a pathogenetic mechanism. Nine girls with RS were treated with 0.3 g of tyrosine and 0.1 g of tryptophan per kg body weight for 2 to 17 weeks. This resulted in a median rise in the spinal fluid concentration of the dopamine metabolite homovanillic acid by 31%, and of the serotonin metabolite 5-hydroxyindoleacetic acid by 40%. This finding supports the hypothesis of a compromised neurotransmitter synthesis and indicates that it can be stimulated by supply of amino acid precursors. A double-blind cross-over trial including 11 girls did not show clinical improvement during a treatment period of 8 to 10 weeks.
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PMID:Biochemical and clinical effects of tyrosine and tryptophan in the Rett syndrome. 169 42

We reviewed nine patients with Rett syndrome, a progressive encephalopathy that is being diagnosed more frequently in the United States. It occurs in females, causing mental deterioration, autistic behavior, and classic hand-wringing motion. The orthopaedic manifestations include scoliosis, lower extremity contracture, and coxa valga. Bracing and surgery are indicated to prevent or correct deformity and maintain ambulation.
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PMID:Orthopaedic manifestations of Rett syndrome. 201 May 22

We report a girl with the Rett syndrome who had acute encephalopathy probably induced by calcium hopantenate (HOPA). This 4-year-6-month-old girl had a history of moderate developmental delay and had received HOPA administration when first admitted at 2 years 6 months of age with hypoglycemia, hyperammonemia, lactic and pyruvic acidemia, and non-ketotic dicarboxylic aciduria. After this episode, she showed the rapid destructive stage of the Rett syndrome, i.e., severe psychomotor retardation with loss of speech, peculiar stereotypic hand movements, autistic behavior and seizures. Despite subsequent investigations, including analysis of urinary metabolites of organic and amino acids, measurement of serum carnitine and a muscle biopsy, we could not clarify the primary metabolic abnormalities in this girl.
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PMID:A case of the Rett syndrome with acute encephalopathy induced during calcium hopantenate treatment. 206 99

Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. The syndrome has incidence similar to that of phenylketonuria and autism in females. It has been widely recognised only since 1983. After six months of age head growth decelerates associated eventually with severe dementia, and autism, apraxia, stereotypic "hand washing" movements and loss of previously acquired skills occurs. Supportive symptoms may include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. Occurrence indicates sporadic new mutations as a cause. The case histories of two patients diagnosed in New Zealand are described.
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PMID:Rett syndrome: case reports and review. 218 54

Rett syndrome is a progressive encephalopathy restricted to the female sex. In the present paper a possible genetic cause for this syndrome is discussed, based on data from the literature as well as our own. Our results are in agreement with others regarding no increase in parental age, or in spontaneous abortions rate among the mothers of affected children and with a normal sex ratio among sibs. We have found no chromosome rearrangement detectable with the methods used and no correlation between fra(X) (p22) and the Rett syndrome. We have observed an alteration in the sequence of replication in one of the two types of late-replicating X-chromosome present in normal women, and suggest that this may signify that genes which are active in the late-replicating X-chromosome are inactivated (or vice-versa) in these patients. This fact could be related to the abnormal phenotype observed in Rett syndrome patients.
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PMID:In search of a genetic basis for the Rett syndrome. 206 19

Two young males in their thirties are reported with a clinical history and examination indistinguishable from typical females with the Rett syndrome. Both had normal early development. The first patient had a regression by the end of the second year. He was late in walking, had prominent hand-wringing from the age of 4 years, and non-progressive dystonia from the age of 14 years. He is still ambulatory. Seizures which started at the age of 18 months have been easily controlled. The second patient has had a severe seizure disorder since the age of 7 months. In his early teens, he lost ambulation and his height and weight fell below the 2nd percentile. He has severe foot dystonia without spasticity. Both patients have a normal head size and no evidence of atrophy on a CT scan of the brain. Both had kyphoscoliosis in their teens. It is difficult to evaluate the incidence of such cases. Little attention being paid to the normal early development, they hide behind vague diagnoses such as cerebral palsy, static encephalopathy, and behavior disorder. Dystonia is often confused with spasticity, the lack of paralysis is not appreciated, apraxia and hand wringing are assumed to be self-stimulatory behaviors.
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PMID:The Rett syndrome in males. 234 22

Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tachypnea and O2 desaturation were observed only during wakefulness. The analogy of these patterns with those of genetic syndromes such as familial encephalopathy and the Rett syndrome led us to postulate the aspecificity of this finding and the importance of further studies to elucidate the role of impaired behavioural and automatic breathing system control.
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PMID:Breathing disorders in males with acquired encephalopathy. 234 30

Positron emission tomography (PET) was performed in four patients with Rett syndrome (RS) to elucidate the cerebral blood flow and oxygen metabolism. Cerebral blood flow (CBF), cerebral metabolic rate of oxygen (CMRO2), and oxygen extraction fraction (OEF) were measured quantitatively with HEADTOME-IV using 15O2, C15O2 steady state inhalational technique. As to the correlation between CBF and CMRO2, these four patients were compared with nine cases with other neurological disorders. Case 1, the youngest girl among the patients, showed milder symptoms than others. In all patients, no abnormal findings except for mild brain atrophy were seen on CT. In case 1, values of CBF might be lower for her age than normal values by the report of Kety. OEF was markedly reduced in all regions of three patients with RS (cases 2, 3, 4). These decreased OEF might be caused by reduced oxygen metabolism. However, case 1 which was the youngest and had milder symptoms, showed almost normal values of OEF. The distribution of CBF and CMRO2 was thought not to be abnormal in all patients. On the other hand, there was no discrepancy between CBF and CMRO2 in nine neurological control subjects. Decreased value of OEF was known to be seen in mitochondrial encephalopathy as well as an early stage of cerebral infarction. In mitochondrial encephalopathy, OEF was thought to decrease by reduced oxygen metabolism due to disturbance of aerobic glycolysis. Although the cause of reduced oxygen metabolism in RS was obscure, these results suggested that in RS there was some disturbance of oxygen metabolism of the brain, and values of OEF might be related to clinical status of RS or age.
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PMID:[Cerebral blood flow and oxygen metabolism in Rett syndrome]. 236 59

Seven girls with Rett syndrome, a progressive degenerative encephalopathy affecting girls, were studied with single photon emission computed tomography and compared with an aged-matched control group of nine normal children. Global cerebral blood flow was significantly lower in Rett syndrome (54 vs 69 mL/100 g per minute), and the flows in prefrontal and temporoparietal association regions of the telencephalon were markedly reduced, whereas the primary sensorimotor regions were relatively spared. The flow distribution in Rett syndrome is very similar to the distribution of brain metabolic activity in infants of a few months of age. The abnormal regional cerebral blood flow distribution most likely reflects the widespread functional disturbances in the brain of patients with Rett syndrome, whereas computed tomographic and neuropathologic examination only reveal slight changes when compared with normal children.
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PMID:Immature pattern of brain activity in Rett syndrome. 239 39

EEG development through advancing clinical stages was studied in 30 cases of Rett syndrome, a progressive encephalopathy seen so far only in girls. Besides slowing of background activity and epileptic patterns, which are found in many types of 'degenerative' brain diseases, we observed in advanced stages of Rett syndrome unusual EEG patterns resembling those seen in slow virus encephalitis. On the other hand, the EEG was normal in one case of advanced Rett syndrome. The typical steps of EEG development were: initially normal EEG; as the first abnormality rolandic spikes, often followed by other epileptic patterns; and, in more advanced stages, a pseudoperiodic delta pattern and occasionally generalized periodic spike activity. The results motivate a discussion concerning other possible origins of Rett syndrome in addition to the supposed genetic one. The question is raised whether Rett syndrome might be etiologically heterogeneous.
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PMID:EEG development in Rett syndrome. A study of 30 cases. 246 71


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