Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 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

We report a 2 year-old boy with Menkes' kinky hair disease associated with a solitary huge bladder diverticulum. To our knowledge this is the first reported case treated successfully by surgical excision under general anesthesia, which has been previously considered hazardous due to the poor general condition of the patient.
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PMID:Menkes' kinky hair disease associated with a large bladder diverticulum: a case report. 925 76

Menkes disease is a rare sex-linked disorder of copper metabolism, characterized with several multiple organ dysfunctions. It is frequently associated with seizure disorders, mental retardation, and urologic abnormalities. It may also have some serious respiratory complications, such as upper airway obstruction related to micrognathia, risks of gastroesophageal reflux and the aspiration with poor pharyngeal muscle control, and hazard to easy cerebral bleeding to noxious stimuli and easy fracture of the bones. We report a 1 year and 10 month-old boy of Menkes disease with a large bladder diverticulum associated with persistent urinary tract infections who required the surgical treatment. Cystostomy was scheduled and performed under general anesthesia. In the preoperative examination, three-dimentional computed tomography images were essential and very useful for preanesthetic anatomical evaluation of the upper airway, which revealed subglottic narrowing with micrognathia. Considering the anticipated difficulty of the tracheal intubation, and to avoid or minimize the noxious stimuli related to the intubation, we had chosen to use laryngeal mask airway, which provided an appropriate, safe anesthetic respiratory care in this case.
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PMID:[Case report : respiratory care for anesthesia in a patient with Menkes syndrome and micrognathia]. 1917 25

We report anesthetic management of a 6-month-old boy with Menkes disease who underwent three surgeries for vesicoureteral reflux, rupture of the bladder diverticulum, inguinal hernia, and gastroesophageal reflux. Menkes disease is a rare sex-linked disorder of copper absorption and metabolism. Anesthetic management of such patients is rather challenging because of high incidence of seizures, gastroesophageal reflux with the risk of aspiration, hypothermia, airway and vascular complications. In our patient general anesthesia was uneventfully maintained by sevoflurane combined with intravenous remifentanil and fentanyl. We experienced no major complications except some difficulties with intravenous and arterial cannulation. It was especially difficult to establish intravenous and invasive blood pressure lines because of tortuous blood vessels in this patient. We conclude that in patients with Menkes disease scheduled for surgery intravenous access should be established before the induction of general anesthesia. The necessity of invasive blood pressure monitoring should be also carefully considered beforehand.
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PMID:[Anesthetic management of Menkes disease infant with difficult vascular access]. 2096 Sep 3