Most haemangiomas and vascular malformations are identified according to clinical criteria. A good knowledge of the classification and clinical characteristics of the vascular anomalies is necessary ...when managing these patients. However, some cases are challenging either because of an atypical presentation (e.g., soft-tissue mass with normal overlying skin) or because of classification difficulties. Doppler US and MRI are the two main imaging modalities that allow classification of the vascular anomalies and are useful in those clinically uncertain cases to establish the correct diagnosis. This aids the choice of the most appropriate treatment and to inform the parents of the prognosis. High-resolution grey-scale and Doppler US allow excellent visualization of most superficial masses. Doppler US is the easiest way to assess the haemodynamics of a vascular lesion and to clarify a doubtful diagnosis between a haemangioma and vascular malformation. MRI is the best technique for evaluating the extent of the lesions and their relationship to adjacent structures. While newly developed drugs from angiogenesis research labs are awaited, radiologists have an important role in the treatment of haemangiomas and vascular malformations. Intervention remains crucial in cases of alarming haemangiomas and venous malformations (VM), lymphatic malformations (LM) and arteriovenous malformations (AVM). A multidisciplinary team, including paediatricians, haematologists, surgeons and radiologists, must manage the problem cases both in terms of diagnostic work-up and therapeutic options. This paper will briefly discuss the imaging findings and treatment of vascular anomalies.
Clinical trial comparing image quality and entrance dose between Biospace EOS system, a new slot-scanning radiographic device, and a Fuji FCR 7501S computed radiography (CR) system for 50 patients ...followed for spinal deformities.
Based on their physical properties, slot-scanners show the potential to produce image quality comparable to CR systems using less radiation. This article validates this assertion by comparing a new slot-scanner to a CR system through a wide-ranging evaluation of dose and image quality for scoliosis examinations.
For each patient included in this study, lateral and posteroanterior images were acquired with both systems. For each system, entrance dose was measured for different anatomic locations.
Dose and image quality being directly related, comparable images were obtained using the same radiograph tube voltage on both systems while tube currents were selected to match signal-to-noise ratios on a phantom. Different techniques were defined with respect to patient's thickness about the iliac crests. Given dose amplitudes expected for scoliosis examinations, optically stimulated luminescence dosimeters were chosen as optimal sensors. Two radiologists and 2 orthopedists evaluated the images in a randomized order using a questionnaire targeting anatomic landmarks. Visibility of the structures was rated on a 4 level scale. Image quality assessment was analyzed using a Wilcoxon signed-rank tests.
Average skin dose was reduced from 6 to 9 times in the thoracoabdominal region when using the slot-scanner instead of CR. Moreover, image quality was significantly better with EOS for all structures in the frontal view (P < 0.006) and lateral view (P < 0.04), except for lumbar spinous processes, better seen on the CR (P < 0.003).
We established that the EOS system offers overall enhanced image quality while reducing drastically the entrance dose for the patient.
The approach to treating common (cystic) lymphatic malformations (LMs) has evolved significantly over the last decade due to clinical research and recent developments in molecular biology. Surgery, ...sclerosing agents, and medical drugs with specific targets for biological therapy have been reported for the management of LMs. We will discuss the importance to standardize the location and imaging characterization of LMs to improve the knowledge about the outcome of the different therapeutic options. Our goal is to help the reader understand the different options for the management of LMs with the balance between risk and benefit for the patients.
Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and ...capillary malformation (CM)-AVM. Previously, we identified
mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs.
We conducted a genome-wide linkage study on a CM-AVM family. Whole-exome sequencing was also performed on 9 unrelated CM-AVM families. We identified a candidate gene and screened it in a large series of patients. The influence of several missense variants on protein function was also studied in vitro.
We found evidence for linkage in 2 loci. Whole-exome sequencing data unraveled 4 distinct damaging variants in
in 5 families that cosegregated with CM-AVM. Overall, screening of
detected 47 distinct mutations in 54 index patients: 27 led to a premature stop codon or splice-site alteration, suggesting loss of function. The other 20 are nonsynonymous variants that result in amino acid substitutions. In vitro expression of several mutations confirmed loss of function of EPHB4. The clinical features included multifocal CMs, telangiectasias, and AVMs.
We found
mutations in patients with multifocal CMs associated with AVMs. The phenotype, CM-AVM2, mimics
-related CM-AVM1 and also hereditary hemorrhagic telangiectasia.
-encoded p120RASGAP is a direct effector of EPHB4. Our data highlight the pathogenetic importance of this interaction and indicts EPHB4-RAS-ERK signaling pathway as a major cause for AVMs.
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.
Background Congenital hemangiomas have been divided into 2 major subtypes based on clinical behavior: rapidly involuting congenital hemangioma (RICH) and noninvoluting congenital hemangioma (NICH). ...Objective We describe a clinical subtype of congenital hemangioma that begins as a RICH but fails to completely involute and persists as a NICH-like lesion. We propose the term “partially involuting congenital hemangioma” for this lesion with overlapping features. Methods A review of the medical charts, serial clinical photographs, imaging, and biopsies performed on children with a diagnosis of partially involuting congenital hemangioma between 2001 and 2012 at Centre Hospitalier Universitaire Sainte-Justine pediatric dermatology/vascular anomalies clinic was performed. Results Eight full-term, healthy infants presented at birth with vascular lesions typical of RICH. Affected locations included the head and neck, trunk, or extremities. Size varied from 2.0 × 1.5 cm to 13.0 × 8.5 cm. All had rapid involution during the first 12 to 30 months of life before stabilizing in size and appearance. Limitations Only a small number of cases were identified. Conclusion Partially involuting congenital hemangiomas are congenital hemangiomas with a distinct behavior, evolving from RICH to persistent NICH-like lesions. Their recognition and study will help us better understand whether RICH and NICH are indeed separate entities or simply part of a spectrum.
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.
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.
PDF
