Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment

AJR Am J Roentgenol. 2022 Jun;218(6):1089-1101. doi: 10.2214/AJR.21.27200. Epub 2022 Jan 19.


Lymphatic anomalies comprise a spectrum of disorders ranging from common localized microcystic and macrocystic lymphatic malformations (LMs) to rare complex lymphatic anomalies, including generalized lymphatic anomaly, Kaposiform lymph-angiomatosis, central conducting lymphatic anomaly, and Gorham-Stout disease. Imaging diagnosis of cystic LMs is generally straightforward, but complex lymphatic anomalies, particularly those with multiorgan involvement or diffuse disease, may be more challenging to diagnose. Complex lymphatic anomalies are rare but associated with high morbidity. Imaging plays an important role in their diagnosis, and radiologists may be the first clinicians to suggest the diagnosis. Furthermore, radiologists are regularly involved in management given the frequent need for image-guided interventions. For these reasons, it is crucial for radiologists to be familiar with the spectrum of entities comprising complex lymphatic anomalies and their typical imaging findings. In this article, we review the imaging findings of lymphatic anomalies, including LMs and complex lymphatic anomalies. We discuss characteristic imaging findings, multimodality imaging techniques used for evaluation, pearls and pitfalls in diagnosis, and potential complications. We also review recently discovered genetic changes underlying lymphatic anomaly development and the advent of new molecularly targeted therapies.

Keywords: MRI; lymphatic anomalies; vascular anomalies.

Publication types

  • Review

MeSH terms

  • Child
  • Cysts*
  • Humans
  • Lymphatic Abnormalities* / diagnostic imaging
  • Lymphatic Abnormalities* / genetics
  • Lymphatic Abnormalities* / therapy
  • Multimodal Imaging
  • Osteolysis, Essential* / diagnosis
  • Osteolysis, Essential* / therapy
  • Radiologists