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Activating mutation of PIK3CA is linked with cases of overgrowth syndromes and belongs to the PIK3CA-related overgrowth spectrum (PROS). Mutations in this gene are associated with vascular malformations, brain abnormalities, and an increased risk for certain tumors. We report the case of a newborn girl, preterm at 34 weeks of gestation, referred to our center for atypical necrotizing enterocolitis (NEC). At laparotomy, the appearance of the intestinal tract was described as puffy, cauliflower-like with a dark purplish coloration. Subsequently, the colostomy was described as having a consistent proliferative appearance. Medical treatment with sirolimus resulted in minimal improvement. There are no reported cases in the literature of association between NEC and PIK3CA mutation. It is possible that PIK3CA mutation, including the related vascular anomalies, plays a role in the pathogenesis of NEC with this condition.
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INTRODUCTION: Non-alcoholic fatty liver disease (NAFLD) is increasingly prevalent in obese adolescents. Increased systemic inflammation and decreased gut microbial diversity linked to obesity affect the liver and are also associated with cardiovascular diseases in adulthood. However, NAFLD and vascular alterations are reversible. METHODS AND ANALYSIS: This pilot study evaluated the feasibility of a prospective open-label randomised controlled trial evaluating the effects of polyphenols on NAFLD and vascular parameters in obese adolescents. Children aged 12-18 years with hepatic steatosis (n=60) will be recruited. The participants will be randomised with a 1:1 allocation ratio to receive polyphenol supplementation one time per day for 8 weeks along with the clinician-prescribed treatment (group B, n=30) or to continue the prescribed treatment without taking any polyphenols (group A, n=30). The outcome measures will be collected from both the groups at day 1 before starting polyphenol supplementation, at day 60 after 8 weeks of supplementation and at day 120, that is, 60 days after supplementation. The changes in hepatic steatosis and vascular parameters will be measured using liver and vascular imaging. Furthermore, anthropometric measures, blood tests and stool samples for gut microbiome analysis will be collected. After evaluating the study's feasibility, we hypothesise that, as a secondary outcome, compared with group A, the adolescents in group B will have improved NAFLD, vascular parameters, systemic inflammation and gut microbiome. ETHICS AND DISSEMINATION: This study is approved by Health Canada and the hospital ethics. Participants and their parents/tutors will both provide consent. Trial results will be communicated to the collaborating gastroenterologists who follow the enrolled participants. Abstracts and scientific articles will be submitted to high-impact radiological societies and journals. CLINICALTRIALS: gov ID: NCT03994029. Health Canada authorisation referral number: 250 811. Protocole version 13, 2 June 2023. TRIAL REGISTRATION NUMBER: NCT03994029.
Subject(s)
Elasticity Imaging Techniques , Non-alcoholic Fatty Liver Disease , Pediatric Obesity , Child , Humans , Adolescent , Non-alcoholic Fatty Liver Disease/diagnostic imaging , Non-alcoholic Fatty Liver Disease/drug therapy , Non-alcoholic Fatty Liver Disease/complications , Carotid Intima-Media Thickness , Pilot Projects , Polyphenols/therapeutic use , Prospective Studies , Pediatric Obesity/complications , Pediatric Obesity/drug therapy , Dietary Supplements , Inflammation/complications , Randomized Controlled Trials as TopicABSTRACT
BACKGROUND: Carotid artery intima-media thickness (IMT) is a sub-clinical radiologic marker of atherosclerosis in children. It is associated with adult-onset vascular disease. OBJECTIVE: To determine normal pediatric values of IMT from results observed in the literature. METHODS: Our systematic review was conducted according to PRISMA guidelines. We reviewed 2298 English articles from inception to February 2023. Inclusion criteria included studies evaluating B-mode and radiofrequency (RF)-based IMT measurements based on the American Heart Association, the Association for European Pediatric Cardiology, the Mannheim Consensus, and the American Society of Echocardiography recommendations. A meta-analysis of aggregate data was conducted to obtain the confidence interval (CI) for IMT, using a 95% confidence level. RESULTS: We obtained 88 B-mode-based IMT measurement studies with 6184 children and six radiofrequency echo-tracking-based studies with 766 children. Mean IMT in the pediatric population was 0.43 mm, 95% [CI] 0,42 to 0.44, using the B-mode technique, and 0.41 mm, 95% [CI] 0.36 to 0.45 using the radiofrequency technique. No significant relationship was detected between IMT and age (p value = 0.83). Finally, no significant effect of sex on IMT was found (p value = 0.82 for B-mode and p value = 0.62 for RF). CONCLUSION: Based on the studies selected in this literature review, we were unable to conclude that there was a significant difference between the average IMT of boys and girls. No relationship was demonstrated between age and IMT. IMT is technique-specific, and normal values should be interpreted according to recommendations of recognized consensus to counteract the current heterogeneity in literature. CLINICAL RELEVANCE STATEMENT: Technique and children-specific Intima media thickness measurements help clinicians and scientists to assess the risk of atherosclerosis in children. KEY POINTS: ⢠Intima-media thickness (IMT) does not correlate with age in children without risk factors. ⢠According to current literature, there is no difference in IMT between healthy boys and girls. ⢠There is heterogeneity, even with studies abiding by the official consensus.
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Atherosclerosis , Carotid Intima-Media Thickness , Male , Adult , Female , Humans , Child , Reference Values , Carotid Arteries/diagnostic imaging , Ultrasonography/methods , Atherosclerosis/diagnostic imaging , Risk FactorsSubject(s)
Embolization, Therapeutic , Wounds, Nonpenetrating , Humans , Child , Radiology, InterventionalABSTRACT
INTRODUCTION: An infected popliteal pseudoaneurysm has never been described in the pediatric population. Physicians need to be aware of its presentation and management, in order to diagnose and treat this medical condition adequately. METHODS: We describe the case of a 14-year-old boy who developed myositis and cellulitis centered at the popliteal fossa after playing basketball. A treatment of intravenous cefazolin was started. 5 days later, he experienced a knee pain flare-up, which turned out to be a popliteal pyomyositis with a pseudoaneurysm of the popliteal artery. A saphenous vein graft bypass of the popliteal artery and an excision of the popliteal pseudoaneurysm were performed. Intravenous cefazolin was continued for 6 weeks and prophylactic acetylsalicylic acid for 6 months. RESULTS AND CONCLUSION: This case highlighted the importance of repeating radiologic investigations if a patient suffering from soft tissue infection has persistent pain after several days of appropriate antibiotics. A popliteal pseudoaneurysm can be diagnosed with ultrasound imaging and treated with a popliteal-popliteal bypass. Our patient needed a catheter-guided dilation of the anastomosis at the vein graft 6 months post-surgery, and then evolved favorably and went back to playing basketball 6 months post-dilation.
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BACKGROUND: Mild traumatic brain injury (mTBI) sustained in early childhood affects the brain at a peak developmental period and may disrupt sensitive stages of skill acquisition, thereby compromising child functioning. However, due to the challenges of collecting non-sedated neuroimaging data in young children, the consequences of mTBI on young children's brains have not been systematically studied. In typically developing preschool children (of age 3-5years), a brief behavioral-play familiarization provides an effective alternative to sedation for acquiring awake magnetic resonance imaging (MRI) in a time- and resource-efficient manner. To date, no study has applied such an approach for acquiring non-sedated MRI in preschool children with mTBI who may present with additional MRI acquisition challenges such as agitation or anxiety. OBJECTIVE: The present study aimed to compare the effectiveness of a brief behavioral-play familiarization for acquiring non-sedated MRI for research purposes between young children with and without mTBI, and to identify factors associated with successful MRI acquisition. MATERIALS AND METHODS: Preschool children with mTBI (n=13) and typically developing children (n=24) underwent a 15-minutes behavioral-play MRI familiarization followed by a 35-minutes non-sedated MRI protocol. Success rate was compared between groups, MRI quality was assessed quantitatively, and factors predicting success were documented. RESULTS: Among the 37 participants, 15 typically developing children (63%) and 10 mTBI (77%) reached the MRI acquisition success criteria (i.e., completing the two first sequences). The success rate was not significantly different between groups (p=.48; 95% CI [-0.36 14.08]; Cramer's V=.15). The images acquired were of high-quality in 100% (for both groups) of the structural images, and 60% (for both groups) of the diffusion images. Factors associated with success included older child age (Β=0.73, p=.007, exp(B)=3.11, 95% CI [1.36 7.08]) and fewer parental concerns (Β=-1.56, p=.02, exp(Β)=0.21, 95% CI [0.05 0.82]) about the MRI procedure. CONCLUSION: Using brief behavioral-play familiarization allows acquisition of high-quality non-sedated MRI in young children with mTBI with success rates comparable to those of non-injured peers.
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Brain Concussion , Humans , Child, Preschool , Child , Adolescent , Brain Concussion/pathology , Magnetic Resonance Imaging/methods , Brain/diagnostic imaging , Neuroimaging/methods , AnxietyABSTRACT
Background: Childhood obesity is linked to higher adult mortality and morbidity from atherosclerosis. It is primordial to detect at-risk children earlier-on to prevent disease progression. Carotid intima-media thickness (IMT) is a subclinical radiological marker for early atherosclerosis. B-mode ultrasound is a known technique to assess IMT, but no gold standard technique exists in children. Non-invasive vascular elastography (NIVE) using speckle statistics is an innovative alternative to evaluate IMT and adds by providing translation, strain and shear strain measurements. Validation studies for both techniques lack in children. Purpose: Validate the reproducibility of the 2 techniques in Canadian children. Methods: We conducted a prospective study where anthropometry, blood pressure, IMT and elastography were measured. Six operators obtained 2 measurements for both carotid arteries using both techniques, for a total of 720 measurements. Inter- and intra-class correlation coefficients (ICC) were calculated for each measurement technique and elastography parameters. Results: 30 participants (13.0 ± 1.26 years, 17 girls) were recruited. Twelve were overweight. No significant difference was found in mean IMT between weight groups for either technique (P = .15 and P = .60). We found excellent inter- (ICC = .98 [95% Confidence Interval (CI): .97; .99]) and intra- (ICC = .90-.93) operator reliability for the B-mode technique, and good inter (ICC = .70 [95% CI: .47; .85]) and intra- (ICC = .71-.91) operator reliability for the NIVE-based technique. Poor reliability was found between techniques (ICC = .30 [95% CI: -.31; .65). For elastography parameters, translation was the most reliable (ICC = .94-.95). Conclusion: IMT measurement is reproducible in children but not between techniques. NIVE gives the advantage of evaluating elastography.
Subject(s)
Atherosclerosis , Elasticity Imaging Techniques , Pediatric Obesity , Adult , Female , Humans , Child , Carotid Intima-Media Thickness , Elasticity Imaging Techniques/methods , Reproducibility of Results , Prospective Studies , Canada , Ultrasonography/methodsABSTRACT
Extensive venous malformations involving limbs severely impact quality of life, mostly due to chronic pain and functional limitations. But patients can also display coagulopathy with associated risks of life-threatening thromboembolism and bleeding. Available pharmacological treatments (e.g., sirolimus) are not universally effective. Novel therapies are urgently needed for patients with treatment-resistant venous malformations. We report three patients with TIE-2 receptor mutations treated with alpelisib for 6 months (daily dosing: 50 mg for children weighing <50 kg and 100 mg for those >50 kg). Pain was controlled, gait improved, size of the abnormal venous network decreased, and coagulopathy dramatically improved. Drug exposure was highly variable, suggesting that alpelisib dosing should be individualized to patient's characteristics and guided by therapeutic drug monitoring.
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Antineoplastic Agents , Blood Coagulation Disorders , Vascular Malformations , Antineoplastic Agents/therapeutic use , Blood Coagulation Disorders/drug therapy , Child , Drug Repositioning , Humans , Quality of Life , Thiazoles , Vascular Malformations/complications , Vascular Malformations/drug therapy , Vascular Malformations/geneticsABSTRACT
BACKGROUND: Lymphedema is due to dysfunction of the lymphatic system. It can be primary or secondary. Pediatric lymphedema is more often primary and is a chronic disease with a heavy burden on quality of life. METHODS: Medical records of patients under 18 years of age referred between 1996 and 2021 to the specialized lymphedema clinic at the Sainte-Justine University Hospital Center were reviewed. Demographic data, sex, age at presentation, location of the lymphedema, clinical features, genetic testing, symptoms, complications, investigations, and treatment were collected. RESULTS: Of 180 referred patients, lymphedema was confirmed in 151, and 137 were primary lymphedema. Median age of apparition of primary lymphedema was 7.00 years and was significantly lower in boys than in girls. Primary congenital lymphedema was more frequent in boys (51.0%, 27.3% in girls, P = .007), and onset of primary lymphedema during adolescence was more frequent in girls (53.4%, 25.0% in boys, P = .001). Lower limbs were the most impacted (88.3%). Sixty patients had genetic testing, and 38 (63.3%) of them were discovered to have a pertinent genetic mutation. The most common mutated gene was the FLT4 gene (in 9 patients). Seven patients (5.1%) had associated extensive/central lymphatic malformation and 24 (17.6%) had a polymalformative syndrome/syndromic lymphedema. CONCLUSIONS: Pediatric lymphedema is more frequent in girls, usually involves lower limb, and is most often sporadic, but often associated with a genetic mutation, and genetic testing should be performed.
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Lymphedema , Quality of Life , Adolescent , Child , Female , Genetic Testing , Humans , Lower Extremity , Lymphedema/epidemiology , Lymphedema/genetics , Male , Referral and ConsultationABSTRACT
INTRODUCTION: Genetically targeted drugs in vascular anomalies (VA) are used despite the absence of a validated severity score. The aim of this study was to evaluate the feasibility of grouping phenotypic VA clinical characteristics into a single severity score. METHODS: A systematic literature review including children treated with sirolimus accompanied by a detailed description of phenotype and management was conducted. Demographic data and clinical features were extracted to define distinct categories of phenotypes. RESULTS: Children with VA display two main phenotypes regardless of VA subtype, which may overlap. A systemic phenotype results from direct invasion and compression of vital structures generally leading to hospitalization and aggressive management in infancy. A functional phenotype is associated with chronic pain and disability manifesting mainly during early adolescence and managed in the outpatient setting. CONCLUSION: The two distinct phenotypes described could be the basis for developing a unified scoring system for VA severity assessment.
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Vascular Malformations , Humans , Phenotype , Sirolimus/therapeutic use , Vascular Malformations/complications , Vascular Malformations/genetics , Vascular Malformations/therapyABSTRACT
Intima-media thickness is a known subclinical radiologic marker of the early manifestations of atherosclerotic disease. It is the thickness of the vessel wall, most often the carotid artery. Intima-media thickness is measured on conventional US manually or automatically. Other measurement techniques include radiofrequency US. Because there is variation in its measurement, especially in children, several recommendations have been set to increase the measurement's validity and comparability among studies. Despite these recommendations, several pitfalls should be avoided, and quality control should be performed to avoid erroneous interpretation. This article summarizes current literature in relation to the clinical applications for intima-media thickness measurement in children with known risk factors such as obesity, liver steatosis, hypercholesterolemia, diabetes, hypertension, systemic inflammatory diseases, cancer survival, kidney and liver transplant, and sickle cell disease or beta thalassemia major. Most potential indications for intima-media thickness measurement remain in the research domain and should be interpreted combined with other markers. The objective of diagnosing an increased intima-media thickness is to start a multidisciplinary treatment approach to prevent disease progression and its sequelae in adulthood.
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Carotid Intima-Media Thickness , Hypertension , Adult , Carotid Arteries/diagnostic imaging , Carotid Artery, Common/diagnostic imaging , Child , Humans , Risk FactorsABSTRACT
Off-label drug prescribing, frequent in the treatment of vascular anomalies (VA), relies on the quality of the literature reporting drug efficacy and safety. Our objective is to review the level of evidence (LOE) surrounding drug use in VA, which is more prevalent in pediatric care. A list of drugs used in VA was created with a literature review in July 2020. For each drug listed, the article displaying the highest LOE was determined and then compared between efficacy/safety data, routes of administration, pharmacological categories and a subset of VA. The influence of research quality on study results was also explored. The median LOE for the 74 drugs identified poor methodological quality, with a predominance of retrospective studies or case reports. Drug safety is currently inadequately reported. This is alarming as many treatments display significant safety concerns. Also, current literature displays major publication bias that probably leads to overestimation of drug efficacy in VA.
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Sclerotherapy , Vascular Malformations , Child , Humans , Off-Label Use , Pharmaceutical Preparations , Retrospective Studies , Vascular Malformations/drug therapyABSTRACT
INTRODUCTION: Congenital aneurysms of major arteries are very rare diagnoses and prognosis can be poor if treatment is not initiated rapidly. This is the presentation of two cases of infants with congenital iliac aneurysms who underwent treatment in the neonatal period. The report then proceeds with a literature review of paediatric iliac aneurysms. REPORT: Case 1: A female neonate was diagnosed antenatally with right common iliac (CIA) and internal iliac (IIA) artery aneurysms. Embolisation on day of life (DOL) eight was impossible because of partial thrombosis. The infant was subsequently observed for several months and the aneurysm was injected percutaneously with thrombin on DOL 78. A small residual aneurysm was coil embolised at five months of age. Satisfactory results were observed at one year follow up. Case 2: A female neonate was diagnosed antenatally on routine third trimester ultrasound with voluminous, bilateral CIA aneurysms. The patient underwent surgery on DOL 9 for aneurysm resection and microsurgical vascular reconstruction. The intervention was successful with triphasic flow through the anastomoses on colour Doppler ultrasound at six week follow up. DISCUSSION: Ten cases of congenital iliac aneurysms have been reported previously, with just two diagnosed in the neonatal period and eight undergoing surgical intervention. Definitive management to avoid aneurysm rupture or thrombosis should be timed carefully, and sometimes delayed with watchful waiting, to maximise success and minimise complications. Surgery is the key treatment modality, but endovascular intervention can be considered in selected cases. Congenital iliac aneurysms should be addressed at the safest time for the patient. Following resection, primary microvascular anastomosis is the ideal reconstructive technique, but other options for neonates have been described. Endovascular treatment should be considered for anatomically amenable saccular aneurysms.
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OBJECTIVE. PHACES syndrome includes posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defect with or without supraumbilical raphe. Usually, brain imaging is performed when facial hemangiomas are larger than 5 cm. Data on associated anomalies regardless of hemangioma size are sparse. The objective of this study was to determine, first, the prevalence of PHACES-like associated anomalies in a large sample of infants with all sizes of segmental facial or periorbital focal infantile hemangioma and, second, whether the cutaneous localization of the hemangioma correlates with the type of anomalies present. MATERIALS AND METHODS. The records of all patients of a vascular anomalies practice who had a diagnosis of segmental facial or periorbital focal infantile hemangioma and who had clinical photographs and brain MRI available were reviewed. The clinical photographs were reviewed to determine the localization by segment and lateralization. MRI was reviewed by two experienced pediatric radiologists. If present, cardiovascular anomalies, sternal defects, and eye anomalies were recorded. The criteria for definite and possible PHACES were used. RESULTS. The study included 122 children (90 girls, 32 boys; mean age, 16.6 months). Forty-five (36.9%) children had a facial infantile hemangioma larger than 5 cm. Twenty-two patients (18.0%) had PHACES or possible PHACES syndrome. Cerebrovascular structural anomalies were seen in 14 of 22 and brain anomalies in 6 of 22 patients with PHACES syndrome but in none and one of the patients in the group without PHACES (p < .001). Cardiovascular anomalies were seen in six patients and ocular anomalies in eight patients. All but one of them had PHACES syndrome. CONCLUSION. Clinical concern about associated extracutaneous anomalies is warranted for all children with facial segmental or periorbital focal infantile hemangiomas, including those with small hemangiomas. Further studies are needed to correlate cerebrovascular anomalies with the clinical evolution of hemangiomas and their effects on cerebral perfusion.
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Aortic Coarctation/complications , Aortic Coarctation/pathology , Brain/diagnostic imaging , Brain/pathology , Eye Abnormalities/complications , Eye Abnormalities/pathology , Hemangioma/complications , Magnetic Resonance Imaging/methods , Neurocutaneous Syndromes/complications , Neurocutaneous Syndromes/pathology , Adolescent , Child , Child, Preschool , Female , Hemangioma/pathology , Humans , Infant , Infant, Newborn , Male , Risk Assessment , SyndromeABSTRACT
Due to the increasing complexity of medical education and practice, the training of healthcare professionals for leadership and management roles and responsibilities has become increasingly important. But gaps in physician leadership and management skills have been identified across a broad range of organizational and geographic settings. Many clinicians are inadequately prepared to meet their day-to-day clinical leadership responsibilities. Simultaneously, physicians' leadership and management skills play a central role and yield superior outcomes for patients and health care delivery organizations. Currently, there is a tremendous variability in the amount of time, structure and resources dedicated to leadership/management training for physicians. Physicians who have completed such trainings seem to be pleased with the outcome. However, only a limited number of physicians enroll in these types of trainings. Several reasons can explain this fact, but it seems crucial to investigate what could increase the involvement of medical leaders and managers in these training programs. This paper offers a framework for addressing the barriers to training commitment and for designing initial training interventions for physicians. This framework is rooted in two well-known theoretical models used in social sciences. It aims to promote self-assessed knowledge and expertise amongst physicians about to embrace leader/manager careers. By developing the ability to explore and be curious about one's own experience and actions, physicians may suddenly open up the possibilities of purposeful learning. The process we describe in this paper may be an essential step in fostering the involvement of physicians in leadership and management training processes. And this is essential to contribute to the advancement of medical discipline.
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BACKGROUND: Off-label drug use is associated with an increased risk of adverse drug reactions. It is common in pediatrics and in rare diseases, which are two characteristics applying to vascular anomalies (VA). OBJECTIVES: The aim of this work was to quantify off-label drug use in VA and assess its safety. METHODS: A review was conducted to extract a list of drugs used in VA management. A drug was considered to have significant safety concerns if a black box warning was present or if a serious adverse drug reaction (SADR) was reported in at least 1% of the patients (SADR is defined as a noxious and unintended response to a drug that occurs at any dose and results in hospitalization, prolongation of existing hospitalization, congenital malformation, persistent or significant disability or incapacity, life-threatening condition, or death). The labelling status and safety of each drug was assessed based on the product monograph, Micromedex, and the FDA data. RESULTS: We found that 98.9% of the inventoried drugs were used off-label or unlicensed for VA management. Only the oral solution of propranolol hydrochloride (Hemangeol®) for the treatment of infantile hemangiomas is approved. Significant safety issues concerned 73% of the drugs and were more frequent among systemic than locally delivered drugs. CONCLUSIONS: Off-label drug use in VA is the rule and not the exception. Significant safety concerns are common. It is necessary to carefully weigh risk and benefits for every patient when using systemic and local treatments carrying safety concerns. Patients should be openly informed and involved in the decision-making process.
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Blood Vessels/abnormalities , Drug Labeling , Drug-Related Side Effects and Adverse Reactions , Off-Label Use , Congenital Abnormalities/drug therapy , Humans , Pharmaceutical PreparationsABSTRACT
BACKGROUND: The International Society for the Study of Vascular Anomalies (ISSVA) classification distinguishes between common lymphatic malformations and complex lymphatic anomalies. These entities have overlapping features but differing responses to treatment. Surgery has been the mainstream treatment in intra-abdominal lymphatic malformation, with variable reported success in the literature. OBJECTIVE: The aim of this study was to review the outcome of different treatments for intra-abdominal lymphatic malformations in children. MATERIALS AND METHODS: We retrospectively reviewed all intra-abdominal lymphatic malformations from 1999 to 2019 in children treated by the surgical team or followed in the vascular anomalies clinic of our institution. Children were classified into one of three groups: group A, isolated intra-abdominal lymphatic malformation; group B, common lymphatic malformation in continuity with other regions; or group C, intra-abdominal involvement as part of a complex lymphatic anomaly or associated syndrome. RESULTS: Fifty intra-abdominal lymphatic malformations were diagnosed; five of these were excluded. In group A (n=28), the treatment was surgical resection (n=26) or sclerosing treatment (n=1), with one case of spontaneous regression; no recurrence was observed in 25 patients. In group B (n=7), three patients had partial resection and all had recurrence; four had sclerotherapy alone with good response. In group C (n=10), therapeutic options included surgery, sclerosing treatment and pharmacotherapy, with variable outcomes. CONCLUSION: The management of intra-abdominal malformations requires a team approach. Sclerotherapy is successful in treating macrocystic lymphatic malformation. Surgery is successful in treating isolated intra-abdominal common lymphatic malformation, albeit at times at the cost of intestinal resection, which could be avoided by combining surgery with preoperative sclerotherapy. With surgery there is often limited resectability, and therefore recurrence in intra-abdominal lymphatic malformations that are part of complex lymphatic anomalies associated with syndromes, or in common lymphatic malformations in continuity with other regions. Sclerotherapy is an effective modality in these instances along with pharmacotherapy.
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Lymphatic Abnormalities , Vascular Malformations , Child , Humans , Infant , Lymphatic Abnormalities/diagnostic imaging , Lymphatic Abnormalities/therapy , Retrospective Studies , Sclerotherapy , Treatment Outcome , Vascular Malformations/diagnostic imaging , Vascular Malformations/therapyABSTRACT
Liver transplantation has been historically recommended for patients with congenital absence of the portal vein associated with extrahepatic congenital portosystemic shunts. Here, based on a case report of a 2-year-old girl and a thorough review of all published cases from 1974 to 2020, we show that such a diagnosis most often conceals a hypoplastic portal vein, which can be successfully re-permeabilized through the closure of the shunt in order to re-establish a physiological vascular anatomy. This highlights the importance of achieving a detailed anatomical description of extrahepatic congenital portosystemic shunts with a balloon occlusion test in order to plan the best surgical approach and avoid unnecessary liver transplantation.