Objective To examine the presentation characteristics of patients with Kaposiform hemangioendothelioma (KHE) to describe the spectrum of disease and risk factors for Kasabach-Merritt phenomenon ...(KMP). Study design A retrospective review of 163 patients referred to the Vascular Anomalies Center at Children's Hospital Boston for KHE between 1991 and 2009 identified 107 patients with sufficient data for inclusion. Results The prevalence of KHE in Massachusetts is ∼0.91 case per 100 000 children. KHE manifested in infancy in 93% of cases, with 60% as neonates. Common presenting features included enlarging cutaneous lesion (75%), thrombocytopenia (56%), and musculoskeletal pain or decreased function (23%). Cutaneous KHE favored the extremities, especially overlying joints. In our cohort, 71% developed KMP (11% after initial presentation), and 11% of patients lacked cutaneous findings. Retroperitoneal and intrathoracic lesions, though less common, were complicated by KMP in 85% and 100% of cases, respectively. Compared with superficial lesions, KHE infiltrating into muscle or deeper was 6.3-fold more likely to manifest KMP and 18-fold higher if retroperitoneal or intrathoracic. KHE limited to bone or presenting after infancy did not manifest KMP. Conclusion An enlarging cutaneous lesion is the most common presenting feature of KHE in infancy. Older patients with KHE or those lacking cutaneous manifestations present with musculoskeletal complaints or atypical symptoms. The risk of KMP increases dramatically when tumor infiltrates muscle or when KHE arises in the retroperitoneum or mediastinum.
Objective To describe the clinical and imaging characteristics of a new lymphatic disorder with a unique histological pattern and poor prognosis. Study design An observational, retrospective study ...identified and characterized 20 patients with distinct lymphatic histopathology referred to the Vascular Anomalies Center at Boston Children's Hospital between 1995 and 2011. Results The median age at onset was 6.5 years (range, birth to 44 years). Clinical and radiologic findings suggested a generalized process. The most common presentations were respiratory symptoms (50%), hemostatic abnormalities (50%), and an enlarging, palpable mass (35%). All patients had mediastinal involvement; 19 patients developed pericardial (70%) and/or pleural effusions (85%). Extrathoracic disease manifested in bone and spleen and less frequently in abdominal viscera, peritoneum, integument, and extremities. Despite aggressive procedural and medical therapies, the 5-year survival was 51% and the overall survival was 34%. Mean interval between diagnosis and death was 2.75 years (range, 1-6.5 years). Conclusions We describe a clinicopathologically distinct lymphatic anomaly. We propose the term kaposiform lymphangiomatosis (KLA) because of characteristic clusters or sheets of spindled lymphatic endothelial cells accompanying malformed lymphatic channels. The intrathoracic component is most commonly implicated in morbidity and mortality; however, extrathoracic disease is frequent, indicating that KLA is not restricted to pulmonary lymphatics. The mortality rate of KLA is high despite aggressive multimodal therapy.
To review an initial experience studying the lymphatic system using direct injection of ethiodized oil contrast medium into lymph nodes (ie, intranodal lymphangiography) in children with chylous ...disorders.
Children with chylous disorders who underwent intranodal lymphangiography were included in this retrospective study. Under general anesthesia, ultrasonography was used to guide the placement of a small-bore (22-25-gauge) needle into an inguinal lymph node. Ethiodized oil contrast medium was very slowly injected into the node. Opacification of the lymphatic system was documented with fluoroscopic and digital substraction imaging and videofluoroscopic clips.
Five children (age range, 6 wk to 17 y) with chylous vaginorrhea (n = 1), postoperative chylothorax (n = 2), or spontaneous chylothorax (n = 2) underwent intranodal lymphangiography. The amount of ethiodized oil injected was 0.5-4.5 mL. Intranodal lymphangiography was successfully completed in four patients. One procedure was terminated because of patient motion and extravasation of contrast medium. Lymphangiographic findings included a spectrum of lymphatic channel disorders including incompetence, obstruction, collateralization, chylous reflux, and chylous leak. There were no complications.
The simplified technique of injecting contrast medium into a lymph node to opacify the lymphatic system in children can be an alternative to the more elaborate conventional lymphangiography.
Arteriovenous malformations Uller, Wibke, MD; Alomari, Ahmad I., MD, MSc; Richter, Gresham T., MD, FACS
Seminars in pediatric surgery,
08/2014, Volume:
23, Issue:
4
Journal Article
Peer reviewed
Abstract Arteriovenous malformations (AVMs) are fast-flow vascular malformations composed of a complex vessel network directly connecting feeding arteries to draining veins. The intervening normal ...capillary network is absent. Proper diagnosis and treatment of AVMs is challenging and in need of an interdisciplinary team of experienced physicians. Careful analysis of the clinical features and evaluation of therapeutic options represent the basis for successful management of AVMs. This article will focus on the clinical and radiological findings and in particular on interdisciplinary management strategies of AVMs including minimally invasive endovascular and surgical treatment.
Objectives To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha ( PIK3CA ) mutations would be found in patients with more common disorders ...including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). Study design We used next generation sequencing, droplet digital polymerase chain reaction, and single molecule molecular inversion probes to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children's Hospital who had an isolated LM (n = 17), KTS (n = 21), fibro-adipose vascular anomaly (n = 8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n = 31) from Seattle Children's Hospital. Results Most individuals from Boston Children's Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), fibro-adipose vascular anomaly (5/8), and congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (31/33) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ∼80% of cases. Seventy-four percent of patients with LM from Seattle Children's Hospital also were somatic mosaic for 1 of 5 specific PIK3CA mutations. Many affected tissue specimens from both cohorts contained fewer than 10% mutant cells. Conclusions Somatic PIK3CA mutations are the most common cause of isolated LMs and disorders in which LM is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism because the abundance of mutant cells in a malformed tissue can be low.
Abstract Management of overgrowth syndromes with complex vascular anomalies is challenging. Careful analysis of the various clinical features by an interdisciplinary team of physicians experienced in ...this field is paramount to proper diagnostic and therapeutic approaches. In this article, we focus on the spectrum of the clinical presentation and the management strategies of the most common overgrowth syndromes with complex vascular anomalies.
To assess the safety and efficacy of percutaneous image-guided sclerotherapy with doxycycline as primary treatment of intraabdominal lymphatic malformations (LMs).
Retrospective review was performed ...of all cases of abdominal, mesenteric, or retroperitoneal LMs referred to a single center that were subsequently treated with image-guided percutaneous sclerotherapy.
Ten patients were included, of whom six were male. The mean age was 13 years (range, 2-28 y). Preprocedural cross-sectional imaging demonstrated a macrocystic malformation in nine patients and a mixed macrocystic/microcystic malformation in one. The malformation was accessed under sonographic guidance, followed by injection of opacified sclerosant agent under fluoroscopic guidance. A drainage catheter was placed in eight cases, in which sclerotherapy was repeated through the catheter for another 1 day (n = 2) or 2 days (n = 6). Doxycycline was reconstituted at 10 mg/mL, with a mean per-session dose of 608 mg (range, 80-1,000 mg) and a mean total dose of 1,230 mg (range, 80-3,000 mg). Peritoneal spill was identified in one case, but the patient remained asymptomatic. No other complications were encountered. Follow-up imaging was available in eight patients: complete resolution was seen in seven, with partial resolution in one. There was no recurrence of clinical symptoms in the follow-up period.
Initial results indicate that percutaneous image-guided sclerotherapy of macrocystic intraabdominal LMs with doxycycline is a safe and effective procedure.
Objective CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis and spinal abnormalities) is a rare, complex overgrowth syndrome with ...serious morbidity. In this communication we studied the presence of central and thoracic phlebectasia in patients with CLOVES syndrome and its clinical implications. Methods We conducted a comprehensive search of our databases at Children's Hospital Boston over the last 10 years (1999–2008) for patients with CLOVES syndrome and central and thoracic phlebectasia. Medical records, clinical photographs, and imaging studies of varying modalities were reviewed. Results Review of the clinical data and imaging studies of 12 patients with CLOVES syndrome documented the presence of central and thoracic phlebectasia in 11 patients. Two patients had serious perioperative pulmonary embolism, and 1 died. Conclusions Central and thoracic phlebectasia in patients with CLOVES syndrome is common and increases the risk of pulmonary embolism. Aggressive prophylactic measures should be considered before major interventions.
Venous malformation results from an error in vascular morphogenesis. Although this condition is present at birth, it may not become evident until childhood or adolescence when it has grown large ...enough to cause a visible deformity or symptoms. This article discusses the types, diagnosis, and the nonoperative and operative management of venous malformations.
Lymphatic malformation results from an error in the embryonic development of the lymphatic system. Clinically, lymphatic malformation is characterized by the size of the malformed channels: ...microcystic, macrocystic, or combined (microcystic/macrocystic).This article describes the clinical features, diagnosis, and management of lymphatic malformations.
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