Familial Amyloidotic Polyneuropathy With Transthyretin Gene Mutation

Familial amyloidotic polyneuropathy (FAP) is a rare hereditary amyloidosis that is characterized by slowly progressive peripheral polyneuropathy with other systemic involvement. More than 100 amyloidogenic transthyretin gene mutations have been reported, mainly in endemic areas of Portugal, Japan, and Sweden. We describe two brothers who exhibited progressive painful sensorimotor polyneuropathy with autonomic dysfunction. Gene analysis revealed a heterozygous Asp38Ala substitution in the transthyretin gene; this represents the first reported case of FAP in Korea.

Cerebral Infarction During Sexual Intercourse

Paradoxical embolism after the Valsalva maneuver can cause ischemic stroke in patients with patent foramen ovale (PFO). A 27-year-old woman presented with abnormal movement of the right arm and aphasia. Brain imaging showed acute infarction in the left frontal lobe and segmental steno-occlusion in the left middle cerebral artery. A PFO study demonstrated air embolic signals in the middle cerebral artery. This case of embolic stroke occurred during sexual intercourse, probably related to the Valsalva maneuver, in a patient with PFO.

The Experience of the Total Intravenous Anesthesia of Patient with Noonan Syndrome: A case report / 대한마취과학회지

Noonan syndrome is a condition involving facial, cardiovascular and skeletal abnormalities that may pose problems to anesthesiologists during surgery. Propofol, which is used as an induction agent for noncardiac surgery, produces little or no change in the heart rate. Remifentanil decreases the sympathetic and somatic responses to noxious stimuli and can be given in high doses without negative inotropic effects. We report successful management of a patient with Noonan syndrome, hypertrophic cardiomyopathy, and atrial fibrillation, undergoing laparoscopic cholecystectomy using the the total intravenous anesthesia with propofol and remifentanil.