A novel NF1 mutation in a pediatric patient with renal artery aneurysm.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal arteries. CASE PRESENTATION: We report on a 9-year-old girl with a novel mutation in NF1 gene and renal artery aneurysm, treated by coil embolization and complicated with hypertension. CONCLUSION: Vasculopathy is a complication of NF1, affecting from 0.4 to 6.4% of patients with NF1. Among the vascular abnormalities, renal artery aneurysm is a rare manifestation, with only a few cases regarding adult patients and no pediatric reports described in current literature. The finding of a vascular abnormality in a specific site requires the evaluation of the entire vascular system because multiple vessels could be involved at the same time.

PHIL® (precipitating hydrophobic injectable liquid): retrospective multicenter experience on 178 patients in peripheral embolizations.

PURPOSE: This study aims to analyze safety and effectiveness of PHIL® (Microvention, CA-USA) in peripheral endovascular embolization procedures, both in elective and emergent scenarios. MATERIALS AND METHODS: This is a multicenter retrospective study, involving 178 patients from five interventional radiology departments from January 2017 to December 2021. Patients treated by an endovascular embolization with PHIL® were included; different PHIL® viscosities were adopted. Exclusion criteria were: neuroradiological endovascular interventions, other cohesive liquid embolics adopted during the same procedure, follow-up < 30 days. Technical success was intended as definitive target vessel occlusion without the need for other embolics after PHIL® injection. Clinical success was considered as restoration of hemodynamic status in case of emergent embolization and improvement of clinical conditions in case of elective procedures, without additional interventions at 30 days. RESULTS: Sixty-four women and 114 men, mean age 62 years (range 6-91), were evaluated. Sixty-three patients were in elective scenarios (AVMs, type-II endoleaks, tumors, varices, aneurysms, varicoceles) and 115 were in emergent settings (hemorrhage, pseudoaneurysms, hemoptysis, priapism); 190 procedures were performed in 178 patients. Overall technical and clinical success rates were 94.7% and 92.1%, respectively. The complications rate was 7.4% (6 grade-I, 7 grade-III, 1 grade-IV). PHIL®-25 was the more adopted viscosity; totally, 311 vials were injected (rate: 1.64 vial/procedure). CONCLUSION: In this series, PHIL® proved to be a safe and effective liquid embolic in peripheral embolizations, both in elective and emergent scenarios. The pre-filled syringe preparation allowed operators to use it even when unplanned at beginning of the intervention.

Postpartum Hemorrhage: Rescue.

Severe postpartum hemorrhage (PPH) occurs in around 1%-2% of deliveries and is a leading cause of maternal mortality and morbidity worldwide. Different treatments of PPH are proposed by the scientific society's guidelines; to date, pelvic artery embolization is an effective therapeutic strategy with the advantages of fast speed, repeatability, and the possibility of future fertility preservation. We compared the different PPH treatments, focusing especially on the role of interventional radiology reviewing pelvic vascular anatomy and emphasizing on the timing of embolization and various clinical conditions of PPH.

Renal angiomyolipomatosis and bleeding aneurysms in a tuberous sclerosis context: selective artery embolization in a girl with end-stage renal failure.

Recent developments in endovascular radiological techniques and devices have rendered embolization a major therapeutic option prior to surgery in many renal vascular or neoplastic diseases. A 19-yearold female patient, with a diagnosis of tuberous sclerosis complex (TSC) in childhood, was admitted with severe anemia. Polycystic kidney disease in end-stage renal failure appeared four years before and the patient has been undergoing peritoneal dialysis. The patient's medical history also included bilateral renal angiomyolipomas (AMLs). One year earlier, a unilateral endovascular embolization was performed to repair a bleeding aneurysm at the right renal upper pole. A second bilateral ruptured renal aneurysm was diagnosed at admission. To continue with peritoneal dialysis and prevent intrarenal hemorrhage and intraperitonal bleeding, an urgent bilateral renal AE was performed. Two months later she underwent a bilateral retroperitoneal nephrectomy. The posterior surgical approach, preserved the peritoneal surface area and adequate conditions to continue dialysis. At histology, bilateral AMLs were confirmed and a renal cell carcinoma of the right kidney was concurrently discovered. She undergoes continuous peritoneal dialysis. Urgent selective renal AE represents a feasible treatment for bilateral AML bleeding. It is safe and feasible before performing nephrectomy in patients with end-stage renal failure.

Takayasu's disease effects on the kidneys: current perspectives.

Takayasu arteritis (TA) is a chronic vasculitis disease of unknown etiology. Clinically significant renal disease is relatively common, and renovascular hypertension is the major renal problem. The assessment of TA activity is usually challenging because vascular inflammation may progress to fixed vascular injury without findings of active disease. Until now, the best therapeutic options have not been identified. This review highlights the current perspectives of renal involvement in TA.

Prophylactic use of intravascular balloon catheters in women with placenta accreta, increta and percreta.

OBJECTIVE: To evaluate outcomes of women undergoing cesarean hysterectomy for abnormal invasive placenta (AIP) with and without preoperative balloon catheter placement in internal iliac arteries. STUDY DESIGN: A prospective observational study of women with ultrasound diagnosis of AIP and a planned delivery at our institution. From January 2004 to June 2009, all AIP cases were treated with planned multidisciplinary cesarean hysterectomy alone (CHa group). From July 2009 to September 2013 a pre-operative balloon catheter protocol was introduced (BC group). Statistical analysis considered the entire sample (placenta accreta/increta and percreta) and the individual subgroups (accreta/increta vs percreta). RESULTS: Twenty-three cases of AIP (10 accreta/increta and 13 percreta) were treated with cesarean hysterectomy alone, and 30 cases of AIP (12 accreta/increta and 18 percreta) were treated with cesarean hysterectomy and pre-operative balloon catheters. For the entire sample, a significant difference in estimated blood loss and transfused blood products units was observed between CHa group and BC group. When women with placenta accreta/increta and women with placenta percreta were analysed separately, no difference in estimated blood loss and transfused blood products units was found between the BC and the CHa groups in women with placenta accreta/increta. However, in women with placenta percreta, mean estimated blood loss and transfused blood products units were higher in the CHa group compared with BC group (1507ml vs 933.33ml; 3.31 units vs 0.67 units). Postoperative recovery differed between the two groups, but no differences were observed in any other outcomes. CONCLUSIONS: Pre-operative placement of intravascular balloon catheters is a feasible treatment for AIP, and is particularly useful in cases of placenta percreta.