Hemophagocytic Lymphohistiocytosis can Mimic the Superior Vena Cava Syndrome

Center for Pediatric Oncology, National Cancer Center, Goyang, Korea.
Journal of Pediatric Hematology/Oncology (Impact Factor: 0.9). 03/2012; 34(4):e152-4. DOI: 10.1097/MPH.0b013e3182422a20
Source: PubMed


We report a case of a 3-year-old boy with hemophagocytic lymphohistiocytosis (HLH), with enlarged cervical lymph nodes causing internal jugular vein compression, who initially presented a condition similar to the superior vena cava syndrome. Laboratory data along with neck node and bone marrow biopsies confirmed the HLH. Genetic analysis revealed the patient to be compound heterozygous for 2 variations of the perforin gene, c.1620 A>G and c.562C>G. This case featuring a rare initial manifestation of HLH that has not been previously reported, points to the necessity of considering this disease when symptoms similar to superior vena cava syndrome are encountered.


Available from: Jong Hyung Yoon, Aug 21, 2014