Jordan Gregory,  Zavaletta Vaz,  Malone Ladonna,  Katz Danielle,  Nakano Taizo,  Kulungowski Ann,  Annam Aparna

Final Pr. ID: Poster #: EDU-051

Generalized Lymphatic Anomaly (GLA) is a rare multisystem congenital disorder originating from the abnormal development of the lymphatic system which occur under the spectrum of Complex Lymphatic Anomaly (CLA). In addition to GLA, other CLAs include Kaposiform Lymphatic Anomaly (KLA) and Gorham-Stout Disease (GSD). Lymphatic malformations (LM) associated with GLA are usually apparent at birth or by two years of age. GLA can affect almost any organ of the body but is most commonly associated with lymphatic abnormalities in the skin, abdominal/thoracic viscera and bone.

Multisite soft tissue LM can occur in all CLAs, with macrocystic lymphatic malformations being most common in GLA. These lesions can be found in the mediastinum, retroperitoneum, and subcutaneous tissue. Abdominal viscera involved include the spleen and liver. The frequency of focal splenic lesions is higher with GLA and KLA in comparison to GSD. On MRI, the lesions exhibit marked T2 hyperintensity with no discernable enhancement. In patients with larger splenic lesions, areas of T1 hyperintensity have been documented. Liver lesions in GLA have a similar appearance to the previously described splenic lesions. Nakamura et al. found that more than 30 focal splenic lesions and/or focal splenic lesions with maximum diameters greater than >10 mm were observed only in patients with GLA. On contrast enhanced CT, the lesions are generally well-circumscribed and hypodense. Within the thorax, mediastinal LMs can be seen in GLA but are more common in KLA and GSD. Chylous effusions can occur in all of the CLAs, although it has been reported that effusions in GLA were more likely to be associated with mediastinal involvement. Osseus involvement is common in patients with GLA. GLA has a predilection for the appendicular skeleton, in which the ribs are most affected although cranial, vertebral and lower extremity lesions have been reported. The lesions are usually non-contiguous with medullary destruction and sparing of the cortex. This is in contrast to GSD where cortical destruction, progressive osteolysis, contiguous lesions, and soft tissue infiltration are more common.

Educational Goals:
1) Illustrate the most common imaging characteristics by each organ system affected by GLA and how to differentiate GLA from other CLAs.
2) Raise awareness of the optimal imaging evaluation in patients with GLA.
3) Outline an approach to multidisciplinary management of patients with GLA through a vascular anomalies center. Read More

Authors:  Jordan Gregory , Zavaletta Vaz , Malone Ladonna , Katz Danielle , Nakano Taizo , Kulungowski Ann , Annam Aparna

Keywords:  Generalized Lymphatic Anomaly, Lymphatic Malformations, Complex Lymphatic Anomaly

Chalard François,  Barillon Jeanne,  Blondiaux Eleonore,  Ducou Le Pointe Hubert

Final Pr. ID: Poster #: EDU-071

Complex lymphatic anomalies (CLA) are extremely rare sporadic diseases of genetic origin, primarily affecting children, adolescents, and young adults. According to the International Society for the Study of Vascular Anomalies classification, there are five types of CLA: generalized lymphatic anomaly (GLA), Gorham-Stout disease (GSD), kaposiform lymphangiomatosis, central conducting lymphatic anomaly, and generalized lymphatic dysplasia. These lymphatic malformations are characterized by lymphatic proliferation under the influence of vascular endothelial growth factor.
Our educational exhibit aims to briefly review the pathophysiology of CLA and illustrate the spectrum of lesions in 14 patients, including 9 with GSD and 5 with GLA.
Gorham-Stout disease, also known as vanishing bone disease, is characterized by progressive bone destruction with cortical resorption. The primary lesion, a punched-out osteolysis, typically extends from the initially affected bone to nearby bones and is more frequently observed in the axial skeleton (skull, spine, ribs, pelvic bones and shoulder girdle). It can progress rapidly and sometimes stabilize spontaneously. There is usually no periosteal reaction or bone reconstruction. Patients can present with pain (particularly in case of pathological fracture and vertebral collapse), chronic lymphedema, lower limb length discrepancy, assymetric girth, scoliosis/kyphosis, pericardial ou pleural effusion, and rarely meningitis due to a breach of the skull base.
Generalized lymphatic anomaly, formely called lymphangiomatosis, is a diffuse or multicentric disease involving soft tissues, bones, spleen, liver, intestine, lungs, mediastinum, and skin. Thoracic involvment may result in respiratory failure due to chylous pleural effusion, interstitial syndrome or restrictive syndrome related to spinal deformity, as well as pericardial effusion. Bone lesions primarily involve the axial skeleton, as in GSD. Compared with GSD, bone lesions may be multifocal, bone destruction is less severe and fracture are uncommon. Abdominal involvement includes splenic lesions, retroperitoneal mass, ascites, intestinal hemorrhage, and lymphorrhea. Read More

Authors:  Chalard François , Barillon Jeanne , Blondiaux Eleonore , Ducou Le Pointe Hubert

Keywords:  Lymphatic Malformation, Generalized Lymphatic Anomaly, Children