Image-Guided Transrectal Drainage of Pelvic Abscesses in Children.

OBJECTIVE: To describe our technique and share our experience with image-guided transrectal drainage (TRD) of pelvic abscesses in children. MATERIALS AND METHODS: Retrospective review and analysis of indications for image-guided TRD and examination of procedural outcomes in pediatric patients with pelvic abscesses over 8 years. RESULTS: A total of 69 patients (33 males and 36 females) with symptomatic pelvic abscesses underwent image-guided TRD. The median age and weight of the patients were 11.5 years (range, 3-18) and 46.8 kg (range, 15.1-118.0), respectively. The etiologies of the pelvic abscesses were perforated appendicitis (72.5%) and post-operative collections (27.5%). All patients presented with abdominal pain. Fever, emesis, and diarrhea were also common symptoms. The size of the pelvic abscesses ranged from 24.0 to 937.1 mL (median, 132.7). Technical success was achieved in 68 of 69 TRD procedures (98.6%). Clinical improvement was observed in all patients with technically successful TRD. The TRD catheter dwell time ranged from 0 to 10 days (median, 4.0). Most patients who underwent TRD for perforated appendicitis subsequently underwent elective appendectomy after the resolution of the pelvic abscess (84.0%). The median time from TRD to elective appendectomy was 2.8 months (range, 0.3-6.1). There were no procedure-related complications. CONCLUSION: Image-guided TRD is a safe and effective procedure with high technical and clinical success rates for the treatment of pelvic abscesses in children.

Spectrum of Liver Pathology in Dyskeratosis Congenita.

Dyskeratosis congenita (DC) is a rare multisystemic disorder associated with defective telomere maintenance. Frequent clinical manifestations of DC include reticular skin pigmentation, dystrophic nails, oral leukoplakia, and bone marrow failure. Hepatic disturbances are reported to occur in 7% of DC patients. This study aimed to evaluate the histopathologic spectrum of hepatic involvement in this disorder. DC patients with liver tissue in the pathology database at Boston Children's Hospital from 1995 to 2022 were identified. Clinical and pathologic information was documented. Thirteen specimens from 11 DC patients were included (M:F = 7:4; median age at the time of liver tissue evaluation: 18 y). DC-associated gene mutations were identified in 9 patients; TERF1-interacting nuclear factor 2 ( TINF2) was the most frequently represented gene mutation, seen in 4 patients. All patients had bone marrow failure, whereas dystrophic nails, cutaneous abnormal pigmentation, and oral leukoplakia were noted in 73%, 64%, and 55% of patients, respectively. Seven patients underwent bone marrow transplants before biopsy/autopsy (median interval of 45 mo). Histologically, 3 of 4 patients who presented with portal hypertension showed noncirrhotic changes (nodular regenerative hyperplasia and/or obliterative portal venopathy), whereas prominent central and sinusoidal fibrosis was noted in patients with intrahepatic shunting and those showing features of chronic passive congestion. All cases showed hepatocyte anisonucleosis. One patient developed hepatic angiosarcoma, and another 1 had colorectal adenocarcinoma metastatic to the liver. DC patients show heterogeneous histologic findings in their liver. The findings of noncirrhotic portal hypertension, intrahepatic shunting, and angiosarcoma suggest vascular functional/structural pathology as a possible unifying etiology of hepatic manifestations of DC.

Cerebrospinal fluid leak in epidural venous malformations and blue rubber bleb nevus syndrome.

OBJECTIVE: Clinical manifestations of blue rubber bleb nevus syndrome (BRBNS) and multifocal venous malformation (MVM) vary depending on the location of the lesions. The aim of this study was to assess the risk of developing CSF leaks in patients with epidural venous malformations (VMs). METHODS: The authors retrospectively investigated the relationship between the development of a CSF leak and the presence of epidural VMs. RESULTS: Nine patients (5 females) had epidural VMs and presentation that was confirmatory or suggestive of a CSF leak: 4 had BRBNS, 4 had MVMs, and 1 had a solitary VM. Of 66 patients with BRBNS, clinical and imaging features of CSF leak were noted in 3 (4.5%) with epidural VMs at the age of 11-44 years. A fourth patient had suggestive symptoms without imaging confirmation. An epidural blood patch was ineffective in 2 patients, both with more than one source of leakage, requiring surgical repair or decompression. Symptomatic downward displacement of the cerebellar tonsils was noted in 3 patients with MVM and 1 with a solitary VM; 3 required surgical decompression. CONCLUSIONS: These findings suggest an increased risk of CSF leak in patients with epidural VM, including BRBNS, MVMs, and solitary VMs. Awareness of the association between epidural VM and CSF leakage may facilitate earlier diagnosis and therapeutic intervention.

Kaposiform Lymphangiomatosis: Pathologic Aspects in 43 Patients.

Kaposiform lymphangiomatosis is an uncommon generalized lymphatic anomaly with distinctive clinical, radiologic, histopathologic, and molecular findings. Herein, we document the pathology in 43 patients evaluated by the Boston Children's Hospital Vascular Anomalies Center from 1999 to 2020. The most frequent presentations were respiratory difficulty, hemostatic abnormalities, and a soft tissue mass. Imaging commonly revealed involvement of some combination of mediastinal, pulmonary, pleural, and pericardial compartments and most often included spleen and skeleton. Histopathology was characterized by dilated, redundant, and abnormally configured lymphatic channels typically accompanied by dispersed clusters of variably canalized, and often hemosiderotic, spindled lymphatic endothelial cells that were immunopositive for D2-40, PROX1, and CD31. An activating lesional NRAS variant was documented in 9 of 10 patients. The clinical course was typically aggressive, marked by hemorrhage, thrombocytopenia, diminished fibrinogen levels, and a mortality rate of 21%.

Clinical Uses and Short-Term Safety Profile of Ethiodized Poppy Seed Oil Contrast Agent in the Diagnosis and Treatment of Vascular Anomalies and Tumors.

BACKGROUND: There is a sparsity of data on the use of ethiodized poppy seed oil (EPO) contrast agent (Lipiodol) in patients. We investigated the safety of EPO in children, adolescents, and some adults for diagnostic and therapeutic interventions. METHODS: All patients who underwent procedures with EPO between 1995 and 2014 were retrospectively included. Demographic characteristics, diagnosis, dose, route of administration, preparation of EPO in combination with other agents, and complications were recorded. RESULTS: In 1422 procedures, EPO was used for diagnostic or treatment purposes performed in 683 patients. The mean patient age was 13.4 years (range: 2 months-50 years); 58% of patients were female. Venous malformations (n = 402, 58.9%) and arteriovenous malformations (n = 60, 8.8%) were the most common diagnosis. Combined vascular anomalies included capillary-lymphatic-venous malformations, fibroadipose vascular anomalies (n = 54, 7.9%), central conducting lymphatic anomalies (n = 31, 4.5%), lymphatic malformations (n = 24, 3.5%), aneurysmal bone cysts (n = 22, 3.2%), and vascularized tumors (n = 11, 1.6%). In 1384 procedures (96%), EPO was used in various combinations with sclerosing and embolization agents, including sodium tetradecyl sulfate, ethanol, and glue. The mean volume of EPO used in interventions was 3.85 mL (range: 0.1-25 mL) per procedure with a mean patient weight of 45.9 kg (range: 3.7-122.6 kg) and a weight-adjusted dose of 0.12 mL/kg (range: 0.001-1.73 mL/kg). In 56 procedures (4%), EPO was used as a single agent for diagnostic lymphangiography. The mean volume was 4.8 mL (range: 0.3-13 mL) per procedure with a mean patient weight of 27.4 kg (range: 2.4-79.3 kg) and a weight-adjusted dose of 0.2 mL/kg (range: 0.04-0.54 mL/kg). Procedural-related complications occurred in 25 (1.8%) procedures. The 20 minor and 5 major complications were related to the primary treatment agents. None of them were directly related to EPO. No allergic reactions were noted. CONCLUSION: The use of an ethiodized poppy seed oil contrast agent in children, adolescents, and adults for diagnostic or therapeutic purposes is safe.

The use of the internal mammary vein for central venous access.

PURPOSE: To describe the use of the internal mammary vein as an alternative access for central venous catheters. METHODS: We performed a retrospective review of patients who underwent placement of central venous catheters via the internal mammary vein. Patient demographics, indication for venous access, technical success, catheter type, dwell time and indication for exchange or removal were recorded. RESULTS: Placement of central venous catheters via the internal mammary vein was attempted in 11 patients including 8 children (4 males, mean age 5.7 years) and 3 adults. The most common indication was parenteral nutrition in patients with intestinal failure (7/11). Initial needle access of the vein was successful in all patients. Catheter placement was successful in 9 and unsuccessful in 2 patients due to occlusion of the superior vena cava. There were no immediate complications. A total of 20 catheters of various sizes (3-14.5 French) and lengths (8-23 cm) were either placed (n = 12) or exchanged (n = 8). The most common indications for catheter exchange were poor function and malposition (7/8). Four catheters were removed for infection and 4 were accidentally removed. The mean dwell time was 141 days (range 0-963 days) per catheter for a total of 2829 catheter days. The total mean dwell time per patient, including primarily placed and exchanged catheters, was 314 days (range 5-963 days). CONCLUSIONS: The internal mammary vein may provide a safe alternative route for patients who have lost their traditional access veins.

Two-hour Observation After Liver Biopsy in Children: Clinical and Economic Outcome of a Quality Improvement Intervention.

OBJECTIVE: Following percutaneous liver biopsy performed at our institution on an outpatient basis, children traditionally were observed for 4 hours then discharged after verifying a stable hematocrit level. In June 2015, we adopted a quality improvement project with shorter 2-hour observation for patients with no known risks and the hematocrit test was abandoned.The purpose of this study is to evaluate the clinical and economic outcomes of early discharge of children following liver biopsy. METHODS: We analyzed data on 2 groups of children who underwent ultrasound-guided nontargeted core needle liver biopsy performed on outpatient basis. Group A (100 procedures with 4-hour postprocedural observation time and hematocrit test) was compared with group B (100 procedures with 2-hour observation without hematocrit test). RESULTS: Group A consisted of 92 patients (43 boys; 49 girls) with a mean age of 11.1 years and mean weight of 52.6 kg. Group B had 92 patients (47 boys; 45 girls) with a mean age of 8.9 years and mean weight of 40.5 kg. The mean length of observation was 281 minutes (range 204-540 minutes) and 147 minutes (range 86-332 minutes) for groups A and B, respectively. The mean recovery charges were reduced by 35% per procedure in group B. The tissue obtained was sufficient for pathologic diagnosis in all procedures. There were no biopsy-related complications in either group. CONCLUSIONS: Enhanced recovery with early discharge of low-risk children after 2-hour observation following percutaneous liver biopsy can be safely implemented without adversely affecting the outcome. Shorter postbiopsy observation can be cost-saving and may potentially improve patient satisfaction.

Congenital Disseminated Pyogenic Granuloma: Characterization of an Aggressive Multisystemic Disorder.

OBJECTIVE: To describe the clinical, radiologic, and histopathologic features of "congenital disseminated pyogenic granuloma" involving various organs with high morbidity related to cerebral hemorrhagic involvement. STUDY DESIGN: We searched the database of the Vascular Anomalies Center at Boston Children's Hospital from 1999 to 2019 for patients diagnosed as having multiple vascular lesions, visceral vascular tumors, congenital hemangiomatosis, multiple pyogenic granulomas, or multiple vascular lesions without a definite diagnosis. A retrospective review of the medical records, photographs, histopathologic, and imaging studies was performed. Only patients with imaging studies and histopathologic diagnosis of pyogenic granuloma were included. RESULTS: Eight children (5 male, 3 female) had congenital multifocal cutaneous vascular tumors. Lesions also were found in the brain (n = 7), liver (n = 4), spleen (n = 3), muscles (n = 4), bone (n = 3), retroperitoneum (n = 3), and intestine/mesentery (n = 2). Less commonly affected were the spinal cord, lungs, kidneys, pancreas, and adrenal gland (n = 1 each). The mean follow-up period was 21.8 months. The cerebral and visceral lesions were hemorrhagic with severe neurologic sequelae. The histopathologic diagnosis was pyogenic granuloma with prominent areas of hemorrhage and necrosis. The endothelial cells had enlarged nuclei, pale cytoplasm and were immunopositive for CD31 and negative for D2-40 and glucose transporter 1. CONCLUSIONS: Congenital disseminated pyogenic granuloma is a distinct multisystemic aggressive disorder that primarily affects the skin, brain, visceral organs, and musculoskeletal system. Differentiation of this entity from other multiple cutaneous vascular lesions is critical because of possible cerebral hemorrhagic involvement.

Surgical Management of Fibroadipose Vascular Anomaly of the Lower Extremities.

BACKGROUND: Fibroadipose vascular anomaly (FAVA) is a recently-defined vascular malformation often involving the extremities and presenting in childhood. Patients may present to orthopaedic surgeons with pain, swelling, joint contractures, and leg length discrepancy. There is no established therapy or treatment paradigm. We report on outcomes following surgical excision for patients with this condition. METHODS: Between 2007 and 2016, all 35 patients that underwent excision of lower-extremity FAVA were retrospectively reviewed using a combination of medical records, radiologic findings, and telemedicine reviews. RESULTS: Mean age at initial presentation was 12.3±6.8 years. Mean follow-up from time of definitive diagnosis at our institution was 66 months (range: 12 to 161 mo). Mean follow-up after surgery was 35 months (range: 6 to 138 mo). Females were affected more than males (71% vs. 29%). The most common location of FAVA was in the calf (49%), followed by the thigh (40%). The most commonly involved muscle was gastrocnemius (29%), followed by the quadriceps (26%). At latest follow-up after surgery, there was an improvement in the proportion of patients with pain at rest (63% vs. 29%), pain with activity (100% vs. 60%), as well as analgesia use (94% vs. 37%). Fourteen patients (40%) had symptomatic residual disease or recurrence of FAVA requiring further treatment. Six patients (17%) required further surgery and 6 (17%) required further interventional radiologic procedures. Three patients (9%) required eventual amputation for intractable pain and loss of function. Lesions with direct nerve involvement were associated with persistent neuropathic symptoms at latest follow-up (P=0.002) as well as symptomatic residual disease and/or recurrence requiring further treatment (P=0.01). Seventeen patients (49%) had 19 preoperative joint contractures. Eighteen of the 19 contractures (95%) had sustained improvement at latest follow-up. CONCLUSIONS: In carefully selected patients, surgical excision of FAVA results in improvement of symptoms. However, symptomatic residual disease and/or recurrence are not uncommon. Direct nerve involvement is associated with a worse outcome. LEVEL OF EVIDENCE: Level IV-case series.

Fibroadipose Vascular Anomaly in the Upper Extremity: A Distinct Entity With Characteristic Clinical, Radiological, and Histopathological Findings.

PURPOSE: Fibroadipose vascular anomaly (FAVA) is an intramuscular vascular malformation that has been recently described as a distinct clinical entity. The clinical, radiological, and histopathological characteristics of FAVA in the upper extremity are reviewed. METHODS: This was a retrospective case series of upper-extremity FAVA lesions. RESULTS: We reviewed 19 patients with FAVA of the upper limb. Pain, stiffness, swelling, and flexion contractures were the most common presentations. Except for one lesion confined to the hand, all lesions either presented with or developed a contracture within 10 years. Ten patients underwent surgical debulking. Six required tendon transfer reconstruction and 3 necessitated a free functional muscle transfer. CONCLUSIONS: Fibroadipose vascular anomaly in the upper extremity requires an accurate diagnosis and may benefit from early referral to a multidisciplinary vascular anomaly center with experienced hand surgeons. Compression garments, propranolol, and sclerotherapy seem to be ineffective. Surgical resection focused on symptomatic regions with appropriate reconstruction may have benefit in salvage of limbs with compromised function. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.

BACKGROUND: The term "intramuscular hemangioma capillary type" (IHCT) refers to a fast-flow vascular lesion that is classified as a tumor, although its phenotype overlaps with arteriovenous malformation (AVM). The purpose of this study was to identify somatic mutations in IHCT. METHODS: Affected tissue specimens were obtained during a clinically indicated procedure. The diagnosis of IHCT was based on history, physical examination, imaging and histopathology. Because somatic mutations in cancer-associated genes can cause vascular malformations, we sequenced exons from 446 cancer-related genes in DNA from 7 IHCT specimens. We then performed mutation-specific droplet digital PCR (ddPCR) to independently test for the presence of a somatic mutation found by sequencing and to screen one additional IHCT sample. RESULTS: We detected somatic mutations in 6 of 8 IHCT specimens. Four specimens had a mutation in MAP2K1 (p.Q58_E62del, p.P105_I107delinsL, p.Q56P) and 2 specimens had mutations in KRAS (p.K5E and p.G12D, p.G12D and p.Q22R). Mutant allele frequencies detected by sequencing and confirmed by ddPCR ranged from 2 to 15%. CONCLUSIONS: IHCT lesions are phenotypically similar to AVMs and contain the same somatic MAP2K1 or KRAS mutations, suggesting that IHCT is on the AVM spectrum. We propose calling this lesion "intramuscular fast-flow vascular anomaly."

Imaging findings in epithelioid hemangioendothelioma.

PURPOSE-OBJECTIVE: Epithelioid hemangioendothelioma (EHE) is a rare vascular malignancy with varying biologic behavior. The purpose of this study was to identify imaging findings most characteristic of EHE. METHODS: Retrospective review of clinical and imaging records in patients referred to our Vascular Anomalies Center over a 17 year period with biopsy proven EHE. RESULTS: We evaluated 29 patients (17 F) with median age of 16 years (range 2-76 y). The most common presenting symptoms were pain (n = 13) and palpable mass (n = 7). 22 (70%) had multifocal disease. Most common sites of involvement were lung (n = 25), liver (n = 16), bone (n = 12), soft tissue (n = 3) and lymph nodes (n = 1). Of patients with single site disease, 3 had lung, 3 liver, and 1 had bone lesions. In 18/25 with lung disease, there were multiple nodules of varying sizes and characteristics. In 14/16 with hepatic disease there were multiple nodules with predominantly peripheral distribution. Subcapsular retraction was seen in 10/16 and a "lollipop" sign (hepatic or portal vein tapering at the edge of a well-defined hypoenhancing lesion) identified in 5/16. Of 12 osseous lesions, 11 were lytic, 8 involved vertebrae and 9 involved the axial skeleton. CONCLUSION: EHE has varied imaging findings. The most common sites are lungs, liver, and bone, with multi-organ involvement seen in most. Lung disease is most commonly characterized by multiple nodules. Hepatic lesions demonstrate the most distinctive findings, with peripheral distribution, lack of early enhancement, subcapsular retraction and "lollipop" sign. Osseous lesions are commonly lytic and more prevalent in the axial skeleton.

A somatic activating NRAS variant associated with kaposiform lymphangiomatosis.

PURPOSE: Kaposiform lymphangiomatosis (KLA) is a rare, frequently aggressive, systemic disorder of the lymphatic vasculature, occurring primarily in children. Even with multimodal treatments, KLA has a poor prognosis and high mortality rate secondary to coagulopathy, effusions, and systemic involvement. We hypothesized that, as has recently been found for other vascular anomalies, KLA may be caused by somatic mosaic variants affecting vascular development. METHODS: We performed exome sequencing of tumor samples from five individuals with KLA, along with samples from uninvolved control tissue in three of the five. We used digital polymerase chain reaction (dPCR) to validate the exome findings and to screen KLA samples from six other individuals. RESULTS: We identified a somatic activating NRAS variant (c.182 A>G, p.Q61R) in lesional tissue from 10/11 individuals, at levels ranging from 1% to 28%, that was absent from the tested control tissues. CONCLUSION: The activating NRAS p.Q61R variant is a known "hotspot" variant, frequently identified in several types of human cancer, especially melanoma. KLA, therefore, joins a growing group of vascular malformations and tumors caused by somatic activating variants in the RAS/PI3K/mTOR signaling pathways. This discovery will expand treatment options for these high-risk patients as there is potential for use of targeted RAS pathway inhibitors.

Lymphaticovenous bypass of the thoracic duct for the treatment of chylous leak in central conducting lymphatic anomalies.

BACKGROUND: Central conducting lymphatic anomalies (CCLA) may cause chylous leaks and protein-losing enteropathy (PLE) owing to dysfunction of the central lymphatic channels. Most of the treatment strategies for these conditions are palliative and provide transient improvement. METHODS: We treated 14 patients with intractable chylous leak and/or PLE using a novel technique of lymphaticovenous bypass of the terminal portion of the thoracic duct. Chylous leaks occurred in multiple different anatomic sites. All patients had CCLA and failure of thoracic duct emptying demonstrated by preoperative intranodal lymphangiography. RESULTS: Five patients had complete resolution of symptoms, and two patients had partial improvement. There were no major complications. Of 5 patients with PLE, only one improved after lymphaticovenous bypass. Repeat traditional lymphangiography was performed in 4 patients who did not improve, demonstrating patency of the bypass in all cases with persistent sluggish drainage. One patient had repeat MR lymphangiography that did not show the thoracic duct well. CONCLUSIONS: Bypass of the terminal thoracic duct is a novel procedure that offers improvement and a chance of cure for some patients with devastating manifestations of CCLA who lack other effective therapeutic options. LEVEL OF EVIDENCE: IV.

Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome.

OBJECTIVE: Patients with Klippel-Trénaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities (CLOVES) syndrome have central phlebectasia and enlarged persistent embryonic veins that are often incompetent and prone to thromboembolism. The purpose of the study was to determine the presence of phlebectasia and the incidence of symptomatic pulmonary embolism (PE). METHODS: A retrospective review was conducted of patients referred to the Vascular Anomalies Center at our institution during a 21-year period who were diagnosed with KTS and CLOVES syndrome. Of these, the patients who had PE were screened for thromboembolic risk factors in addition to phlebectasia and the presence of persistent embryonic veins. Treatment outcomes following subsequent endovascular and medical therapies were reported. RESULTS: A total of 12 KTS patients of 96 (12.5%) and 10 CLOVES syndrome patients of 110 (9%) suffered PE. Fourteen patients (64%) developed PE after surgery or sclerotherapy. All of the patients had abnormally dilated central or persistent embryonic veins; 20 patients were treated with anticoagulation (1 died at the time of presentation, and no information was available for 1) after PE, and 14 (66%) patients underwent subsequent endovascular treatment. Five patients developed recurrent PE despite anticoagulation. Two of the patients died of PE. No patients treated with endovascular closure of dilated veins had subsequent evidence of PE. CONCLUSIONS: Patients with KTS and CLOVES syndrome are at high risk for PE, particularly in the postoperative period.

Preoperative Embolization of Venous Malformations Using n-Butyl Cyanoacrylate.

PURPOSE: The purpose of this study was to evaluate the safety and efficacy of preoperative percutaneous n-butyl cyanoacrylate (nBCA) embolization of venous malformations in children. MATERIAL AND METHODS: Clinical data were retrospectively reviewed in children who underwent embolization using nBCA followed by resection of venous malformations. RESULTS: A total of 17 embolizations were performed in 14 patients (9 females, mean age: 5.5 years; median age: 3 years; range 0.1-16 years). The venous malformations involved the lower extremity and the knee joint (n = 7), the trunk (n = 4), head and neck (n = 2), and hand (n = 1). n-Butyl cyanoacrylate was diluted with iodized oil at a ratio of 1:3 to 1:5. The mean and median volume of nBCA per procedure were 2.1 and 2 mL, respectively (range: 0.5-8 mL). There were no complications associated with the procedures. The mean and median time between final embolization and resection were 3.6 and 2 days, respectively. All children underwent successful resection of the symptomatic lesions. The estimated mean and median blood loss were 75 and 50 mL, respectively (range: 5-350 mL). The postprocedure course was uneventful, the days to discharge ranged between 1 and 6 days (mean 3 days). CONCLUSION: Initial results suggest that preoperative percutaneous n-butyl cyanoacrylate embolization of venous malformations is safe and effective in children, with the potential for minimizing blood loss and inpatient stay.

Catheter-Directed Thrombolysis in a Child with Bilateral Renal Artery Graft Thrombosis.

A 5-year-old boy with midaortic syndrome who had undergone aortic bypass and bilateral renal artery grafts presented to the emergency department 1 year after surgery with symptoms of nausea, vomiting, and abdominal pain. Because of delay in diagnosis of bilateral renal artery thrombosis, his condition progressed to anuric renal failure. He underwent catheter-directed thrombolysis 7 days after presentation with administration of tissue plasminogen activator and heparin infusion over a 24-hour period. There was successful resolution of thrombus and complete recovery of renal function to baseline. The patient had normal renal function at 6-month follow-up.

Sonographic screening for Wilms tumor in children with CLOVES syndrome.

BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT. A PubMed literature search was also conducted to find other patients with both conditions. RESULTS: A total of 122 patients with CLOVES syndrome were found in our database (mean age 7.7 years, range 0-53 years). Four patients developed WT; all were diagnosed by 2 years of age. The incidence of WT in our CLOVES patient population (3.3%) was significantly greater than the incidence of WT in the general population (1/10,000) (P < 0.001). Four additional patients with WT and CLOVES syndrome were identified in our literature review. CONCLUSION: Patients with CLOVES syndrome have an increased risk of WT. Given the benefits of early detection and treatment, children with CLOVES syndrome should be considered for quarterly abdominal ultrasonography until age 7 years. Screening may be most beneficial for patients under 3 years of age.

The effect of topical 5-flurouracil application post endoscopic inferior turbinoplasty.

RATIONALE AND OBJECTIVES: Adhesions are the most common complication after nasal surgery and revision. 5-Fluorouracil (5-FU) reduces various adhesions and epithelial growth related complications. The aim of this study was to evaluate the effects of 5-flurouracil application in the nasal cavity after a multi-procedure nasal surgery in term of complications frequency. MATERIALS AND METHODOLOGY: Institutional ethical approval was granted and a double-blinded prospective clinical trial was conducted to study the effect of 5-fu on post-operative complications. At the end of a combined endoscopic inferior turbinoplasty with one or more other nasal surgeries, 5-flurouracil-soaked cottonoid with 1mL of 5-flurouracil (5mg/mL) was applied in one side of nasal cavity and saline-soaked cottonoid was applied contralaterally and left for 5min. Patients were assessed over 2months postoperatively by a blinded observer in terms of adhesions, crustation, discharge, pain, discharge, loss of smell and other complications and nasal symptoms. RESULTS: On the 1st follow up week postoperatively, adhesions were observed in (24 patients) 35%, bilateral in (6 patients) 9% and unilateral in (18 patients) 26%. Unilateral Adhesions were statistically significantly higher in control sides than those in 5-FU sides (22% vs 4% respectively) (p=0.025). Crustation, continued to statistically significantly diminish over time (p=0.035). On the 8th follow up week, adhesions reduction was still statistical significant at the 5-FU treated side (p=0.01). CONCLUSION: 5-FU is safe and effective in preventing adhesions formation when applied during combined endoscopic inferior turbinoplasty procedure with other nasal procedure surgery.

A case report of unusual pneumomediastinum after endoscopic sinus surgery.

INTRODUCTION: Endoscopic sinus surgery is a minimally invasive procedure used to restore normal sinus ventilation and mucociliary function. It is a routine otolaryngology procedure with a success rate of about 90% for symptomatic improvement in patients with refractory chronic rhinosinusitis. Because of the proximity of the paranasal sinuses to the brain and the orbit, it cannot be performed without a potential risk of complications. In our case, without early clinical suspicion, proper diagnosis and management, this unusual occurrence of pneumomediastinum after endoscopic sinus surgery may have led to major complications or even death. PRESENTATION OF CASE: We report a case of unusual mediastinal emphysema in a 53-year-old man after removal of the nasal pack on the day after endoscopic sinus surgery. DISCUSSION: To the best of our knowledge, there are only two reported cases of mediastinal emphysema after endoscopic sinus surgery. What made our case unique was the absence of smoking history, pulmonary disease or infection and normal preoperative chest CT scan. We investigated further with postoperative chest CT scan, bronchoscopy and esophagoscopy to rule out anesthesia related laryngotracheal injury. In our case, the pneumomediastinum was successfully treated conservatively; however, it could have proceeded to mediastinitis, septicemia and death if it had not been diagnosed and treated early. CONCLUSION: Damage to the lamina papyracea can occur during endoscopic sinus surgery and presents as periorbital emphysema. Extension of the emphysema down to the mediastinum cannot be ignored as a possible etiology of the pneumomediastinum. Early diagnosis and proper management are important to avoid mortality.