Imaging of Lymphatic Anomalies
Condition: Gorham Disease; Lymphatic Diseases; Lymphangiomatosis
MeSH terms: Osteolysis, Essential; Lymphatic Diseases
Study type: Interventional

Summary: 
      Lymphatic Anomalies (LA) is characterized by proliferation of lymphatic tissue causing
      deterioration of pulmonary function. Understanding changes in lymphatic anatomy in these
      patients is hindered by the difficulty of imaging the lymphatic system. Dynamic Contrast
      Enhanced MR Lymphangiogram (DCMRL) may be useful in investigating pathological changes in the
      lymphatic system.
    

Detailed description: 
      Lymphatic anomalies (LA) are a spectrum of rare diseases classified into lymphatic tumors and
      malformations. Complicated LA cases in the past have been called lymphangiomatosis because of
      varied disseminated involvement including soft tissue and viscera such as the spleen, liver
      and bone. Pleural effusions and pericardial effusions are often associated with these
      lesions. These are now classified into different phenotypes such as Generalized Lymphatic
      Anomaly (GLA), Gorham's Stout Disease (GSD) and Kaposiform Lymphangiomatosis (KLA). These
      complicated phenotypes can cause massive osteolysis causing a morbidity and mortality from
      infection or paralysis or worsening pulmonary function and effusions (GSD, GLA, KLA).

      The major cause of mortality and morbidity in these patients is the deterioration of
      pulmonary function by chronic chylous effusions and progressive interstitial lung disease.
      Unfortunately, little is known about biomarkers, risk stratification or the pathophysiology
      of this progression. The understanding of changes in patients' lymphatic anatomy with LA is
      hindered by the difficulty of imaging the lymphatic system. Dynamic Contrast Enhanced MR
      Lymphangiogram (DCMRL) is a technique that has recently been developed, allowing dynamic MR
      imaging of the lymphatic system by injecting gadolinium contrast agent in the groin lymph
      nodes.

      This technique has been previously used to identify pathological lymphatic perfusion of the
      lung parenchyma in patients with plastic bronchitis and neonatal chylothorax. Based on these
      imaging findings, a treatment algorithm has been designed and used to successfully treat the
      majority of those patients with these conditions.
    

Intervention name(s): Dynamic Contrast Enhanced Magnetic Resonance Lymphangiography (DCMRL); Heavy Weighted T2 Imaging (T2W); Lymph Node Access
Intervention type(s): Other; Other; Other
Intervention description(s): Following completion of the T2 lymphatic mapping, contrast agent administered will be calculated based on weight. Investigators will use dosage of 0.1cc/kg of contrast which will be injected by hand simultaneously into each lymphatic node (LN) at a rate of 0.5-1 cc per min. One minute after the injection, scanning will be initiated using high spatial and temporal resolution magnetic resonance angiography (syngo time-resolved angiography with stochastic trajectories [TWIST]) sequence. The sequence parameters will be adjusted with a time delay such that a complete volume will be acquired approximately every 20-60 seconds. This will be followed by additional scans with a high-resolution navigator gated 3-dimensional flash inversion recovery (IR) sequence. In all subjects the scan area covered the neck, chest, and abdomen as caudal as feasible.; Magnetic Resonance imaging (MRI) will be performed and T2W MRI lymphatic mapping will be performed using a respiratory navigated and cardiac gated 3 dimensional turbo spin echo sequence with pre-set parameters. Scan time varies from 2-5 min depending upon the size of the subject.; The procedure will be performed under sedation and anesthesia if participants are aged 16 or under. The procedure will be performed with local anesthesia for participants aged over 16 years old.
Using ultrasound guidance two inguinal lymph nodes (one each side) will be directly accessed with 25-gauge spinal needles attached to a short connector tubing. A shallow angle for puncture will be used to create a long subcutaneous tract to assist in stabilizing the needle. A small amount of an oil-based contrast or water soluble contrast will be injected under fluoroscopy guidance to confirm the correct position of the needles inside the lymph nodes. After stabilizing the needle, the subjects will be transferred into the MRI suite.
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Diagnostic
Keywords: Generalized Lymphatic Anomaly; Kaposiform Lymphangiomatosis; Dynamic Contrast Enhanced Magnetic Resonance Lymphangiogram; Magnetic Resonance Imaging