Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on an 8-year-old girl with manifestations of congenital poikiloderma during her first year of life. Macroscopically, there was reticular teleangiectasia on cheeks and thighs, generalized de- and hyperpigmentation, dry skin with pityriasiform scaling and milia as a result of former blister formation. Histologically and ultrastructurally cytoid bodies, probably of keratinocyte origin, were observed. Associated findings were leucocytopenia, hyperlipoproteinaemia, spastic ataxia and lack of teeth. There is consanguinity in the family, but 3 sisters, the parents and the ancestors were completely healthy. Because of transient blister formation on the face, upper arms and elbows we would like to classify our case as Brain syndrome.
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PMID:[Congenital poikiloderma syndrome with early childhood blister formation (Brain syndrome) and unusual associated neurologic symptoms]. 171 88

The central anticholinergic syndrome (CAS) includes central signs (somnolence, confusion, amnesia, agitation, hallucinations, dysarthria, ataxia, delirium, stupor, coma) and peripheral signs (dry mouth, dry skin, tachycardia, visual disturbances and difficulty in micturition). It occurs when central cholinergic sites are occupied by specific drugs and also as a result of an insufficient release of acetylcholine. The CAS can be caused by atropine sulphate, hyoscine (scopolamine), promethazine, benzodiazepines, opioids, halothane, influrane, ketamine. The incidence of CAS during the postoperative period depends on choice and dose of anaesthetic agents, type of surgery, patient's condition and diagnostic criteria. It is close to 10% following general anaesthesia and 4% following regional anaesthesia with sedation. The differential diagnosis of CAS includes an overdose of anaesthetic drugs or an alteration in pharmacokinetics, altered hydratation, electrolyte or acid-base state, hypoglycaemia, hypoxia, hypercapnia, hypocapnia, hyperthermia, hypothermia, hormonal disorders, neurological damage resulting from surgery, embolism, haemorrhage or trauma. The diagnosis of CAS is often determined by a process of exclusion and not actually made until a positive therapeutic response to physostigmine, a centrally active anticholinesterase agent has taken place.
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PMID:[Central anticholinergic syndrome during postoperative period]. 219 41