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)

Aicardi syndrome is a very rare disease. It is characterised by a triad of callosal agenesis, infantile spasms and chorioretinal lacunae. Other congenital defects of the eyes, ribs and vertebrae and other malformations also occur frequently. Mental retardation and usually intractable seizures are constant features. Treatment is only symptomatic and the outcome is very severe in most cases. This case report describes a newly diagnosed patient with Aicardi syndrome. To our knowledge it is the second case diagnosed in Denmark.
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PMID:[Aicardi syndrome as cause of severe epilepsy and mental retardation]. 2195 90

Aicardi syndrome is a rare hereditary disorder that develops in only girls with the trilogy of nutatory epilepsy, callosal agenesis and chorioretinopathy. We experienced general anesthesia twice for a patient with Aicardi syndrome in addition to heavy mental retardation. She underwent surgical correction for cleft lip and palate at 6 months of age and at 2 years of age, respectively. Anesthesia was induced slowly with inhalation of nitrous oxide, oxygen and sevoflurare. After securing an intravenous route, midazolam, thiopental and vecuronium were administered and intubated orally. Anesthesia was maintained with isoflurane safely. Patients with Aicardi syndrome have a high risk of aspiration pneumonia caused by underdeveloped swallowing ability due to callosal agenesis. We should, therefore, pay attention to prevention of seizure and aspiration pneumonia during the perioperative period.
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PMID:[Repeated Anesthesia Management in a Patient with Aicardi Syndrome]. 2700 90


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