Korean J Pediatr.  2015 Mar;58(3):108-111. 10.3345/kjp.2015.58.3.108.

DiGeorge syndrome who developed lymphoproliferative mediastinal mass

• Kim KY
• Hur JA
• Kim KH
• Cha YJ
• Lee MJ
• Kim DS

• KMID: 2149747
• DOI: http://doi.org/10.3345/kjp.2015.58.3.108

Abstract

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing thymic shadow on their plain chest x-ray. Immunodeficient patients are traditionally known to be at an increased risk for malignancy, especially lymphoma. We experienced a 7-year-old DiGeorge syndrome patient with mediastinal mass shadow on her plain chest x-ray. She visited Severance Children's Hospital hospital with recurrent pneumonia, and throughout her repeated chest x-ray, there was a mass like shadow on anterior mediastinal area. We did full evaluation including chest computed tomography, chest ultrasonography, and chest magnetic resonance imaging. To rule out malignancy, video assisted thoracoscopic surgery was done. Final diagnosis of the mass which was thought to be malignancy, was lymphoproliferative lesion.

Keyword

DiGeorge syndrome; Lymphoproliferative disorders; Mediastinal neoplasms

MeSH Terms

Child
Diagnosis
DiGeorge Syndrome*
Humans
Hypocalcemia
Lymphoma
Lymphoproliferative Disorders
Magnetic Resonance Imaging
Mediastinal Neoplasms
Phenotype
Pneumonia
Thoracic Surgery, Video-Assisted
Thorax
Thymus Gland
Ultrasonography