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)

Menkes disease is a rare, sex-linked recessive disorder characterized by kinky hair, convulsion, mental retardation, bone and connective tissue lesions, and hypothermia. These symptoms have been attributed to suppression of copper-dependent enzymes resulting from copper deficiency. We report a case of a 7-month-old infant with Menkes disease who underwent repair of inguinal hernia. Anesthesia was maintained with sevoflurane-N2O-O2, and the operation was carried out uneventfully. Although the patient had been medicated with anticonvulsants preoperatively, transient seizure occurred in the recovery room. We also discuss pathophysiology and anesthetic management of a patient with Menkes disease.
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PMID:[Anesthetic management of an infant with Menkes disease]. 823 Jul 25

Pallister-Killian syndrome is characterized by tetrasomy of the short arm of chromosome 12p, which produces mental retardation of varying degrees and dysmorphic characteristics. We describe anaesthesia in a 2-year-old child affected by this syndrome who underwent surgery for orchidopexy. Anaesthetic consisted of an inhalation mixture of O2, N2O and sevoflurane, together with an inguinal block with ropivacaine and administration of alfentanil plus ketorolac. Tracheal intubation was uneventful. No complications of any type were observed.
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PMID:Anaesthetic management of a child with Pallister-Killian syndrome. 1279 Nov 23