Stent infection and pseudoaneurysm formation after carotid artery stent treated by excision and in situ reconstruction with polytetrafluoroethylene graft: A case report.

BACKGROUND: Stent infection after carotid artery stenting (CAS) can be a life-threatening postoperative complication, but there is a paucity of data due to its exceedingly low frequency. We report a case of stent infection with pseudoaneurysm formation after CAS that was treated through replacing the infected stent and pseudoaneurysm with a polytetrafluoroethylene (PTFE) synthetic vessel graft. CASE DESCRIPTION: An 86-year-old man was treated for the right internal carotid artery with CAS in local hospital. One month after stenting, he suffered aspiration pneumonia and septicemia. Three months after stenting, swelling and tenderness of the right side of his neck appeared. His general condition deteriorated due to septicemia and he was unable to ingest anything by mouth as a result of decreasing levels of consciousness. He was transferred to our hospital. Computed tomography and digital subtraction angiography showed the presence of a pseudoaneurysm around the stent. The neck mass enlarged daily and surgical intervention was required to prevent closure of the airway. Stent and pseudoaneurysm resection and in situ reconstruction with a PTFE synthetic vessel graft were performed. The patient returned to his local hospital 36 days after surgery and had a modified Rankin Score of 5. CONCLUSION: Although the risk of reinfection is high due to the nature of artificial material, stent/pseudoaneurysm resection and in situ reconstruction with a PTFE synthetic vessel graft might be one of the best options for patients suffering stent infection after CAS. To the best of our knowledge, this is the first report of treatment using this material.

PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.

PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular weight 22-kDa. Various pathomechanisms have been postulated in PMP22-related disease, including dysfunction due to missense mutations, and alteration of a gene dose due to duplication/deletion mutations. We identified a novel PMP22 splice site acceptor variant, c.179-1G>A, in a patient with adult-onset chronic generalized polyneuropathy and two asymptomatic family members. Pathophysiological features of the members mainly overlapped with those reported in HNPP, but broad intrafamilial clinical variations were observed. PMP22 transcripts lacking of exon 4 were produced by the variant, presumably leading to in-frame deletion of 47 amino acids. The variant was also shown to exert effect on dosage of PMP22 mRNA. The complex molecular pathology would lead to the unique clinical and pathophysiological conditions.