Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of Turner's syndrome associated with Moyamoya disease in a 10-year-old female is presented. This patient had experienced two periods of syncope and transient right hemiparesis in 2 years. She was short in stature. She had cubitus vargus and mental retardation. The serum LH and FSH values were high. By chromosomal examination Turner's syndrome (karyotype: 45, X/46, X, i(Xq)) was diagnosed. An MRI (SE 2000/20) revealed abnormal vessels on the basal ganglia. Cerebral angiography showed occlusion of bilateral internal carotid arteries at the distal portion, bilateral posterior cerebral arteries at the proximal portion. Basal moyamoya well developed. EDAS (encephalo-duro-arterio-synangiosis) was performed bilaterally. We consider that this may be the first case report of Turner's syndrome associated with Moyamoya disease, and that there may be no relationship between Turner's syndrome and Moyamoya disease in this case.
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PMID:[A case of Turner's syndrome associated with moyamoya disease]. 140 55

In a Nigerian town with a stable population of 20,000, a door-to-door survey was conducted, using a questionnaire involving a complete census and a simple neurological evaluation which had previously showed a 95% sensitivity and an 80% specificity for detecting neurological disease. Positive responders were evaluated and categorised, using agreed criteria for diagnoses. Nearly 100% cooperation was obtained. Life prevalence ratio for at least one episode of headache was 51/1000. Crude point prevalence ratio for migrainous headache was 5.3/100, and peak age-specific ratio was in the first decade. Prevalence ratio for epilepsy was 533/100,000 and peak age-specific prevalence ratio occurred in the 5-14 years age groups. The prevalence ratio for peripheral nerve disorders was 268/100,000, and age-specific prevalence ratio for tropical neuropathy increased with age. Prevalence ratio for stroke was rather low at 58/100,000, but was probably due to the people's attitude to the disabled elderly and high mortality of stroke which showed annual mortality rate of 70/100,000 which increased with age to 1519/100,000 per year in the eighth decade. Crude prevalence ratios (cases per 100,000) for others are 112 for neurological complications (including sciatica) of spondylosis, 15 each for poliomyelitis, motor neurone disease, development speech disorders, 10 each for syncope, hereditary neuropathies. Parkinson's disease, benign essential tremor, primary cerebellar degeneration, cerebral palsy, mental retardation, organic psychosis (probable intracranial tumor) and 5 each for muscular dystrophy, pyomyositis, spina bifida occulta, alcohol dependence and cerebral malaria. The implications of the findings are important for development of community neurological services in the developing countries.
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PMID:Neurological disorders in Nigerian Africans: a community-based study. 303 73

Hyperventilation (HV) is an important activating procedure in clinical EEG. Paroxysmal HV slowing is associated with hypoglycemia and is common in children. Paroxysmal slowing in adults is sometimes interpreted as indicating cerebral instability or paroxysmal tendencies. We investigated the clinical correlates of paroxysmal HV slowing in 100 consecutive EEGs recorded in 1984 and compared these to 100 controls (age-matched normal EEGs recorded since 1982). Twenty-eight percent of patients over 15 with paroxysmal HV slowing not due to hypoglycemia had headaches, 80% of them vascular. Ten percent had syncope, 15% acute behavioral changes possibly representing seizures, 9% psychiatric disorders, 5% assorted complaints of obscure etiology, 20% had clinically definite seizures, 10% assorted neurologic disorders other than epilepsy, and 3% mental retardation. Fewer patients with HV paroxysms had epilepsy than did control individuals (p less than 0.05), while neurologic disorders of other kinds were more often found in those with HV paroxysms (p less than 0.025). Specific psychiatric diagnoses were less frequent in the paroxysmal HV group, but the difference was not significant. Paroxysmal HV responses in non-hypoglycemic adults may identify individuals prone to syncope, vascular headaches, or other autonomic dysfunction. They are not correlated with epilepsy however, and should not be considered abnormal.
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PMID:Paroxysmal hyperventilation responses in the adult electroencephalogram. 373 97

We report 5 pediatric patients (2 male, 3 female; age range: 4-8 years) with complex partial status epilepticus (CPSE). Four patients had previous illnesses and mild motor or mental retardation. In 2 patients, CPSE was induced by inappropriate management or selection of antiepileptic drugs. Clinical features varied and automatisms were observed in 3 patients. In 1 patient, decreased physical tone with syncope and impaired consciousness with amaurosis were observed. The episodes of CPSE were continuous in 3 patients and recurrent in 2 patients. In 4 patients, ictal electroencephalographic (EEG) findings, including video-EEG analyses of 3 patients, demonstrated persistent focal epileptic features. Intravenous diazepam abolished CPSE in 3 patients with brief periods of definite EEG localizations remaining. In 4 patients, seizure prognoses were favorable after appropriate treatments; in 1 patient, seizures were intractable even after antiepileptic drug administration.
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PMID:Complex partial status epilepticus in childhood. 853 78