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.

Download full-text


Available from: Jong Hyung Yoon, Aug 21, 2014
39 Reads
  • [Show abstract] [Hide abstract]
    ABSTRACT: Experience with ten children with superior vena cava obstruction is reported. Five patients had non-Hodgkin's lymphoma, two had Hodgkin's disease, two had benign lesions, and one patient was suspected on clinical and radiologic basis to have a lymphoma. The clinical situation at presentation was often critical and required rapid treatment. Radiotherapy and/or chemotherapy were used initially as lymphoma was the most frequent cause of obstruction. Urgent thoracotomy was resorted to when treatment failed. Survival with no evidence of disease for more than 5 years was observed in three children: one had a cystic lymphangioma, another had a mediastinal abscess, and the third had a Hodgkin's lymphoma. Review of the literature from 1951 to 1976 revealed that only 24/150 children reported with superior vena cava obstruction syndrome had mediastinal tumors; the remainder developed the obstruction after surgical procedures on the heart or vena cava.
    Pediatrics 04/1983; 71(3):337-41. · 5.47 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Obstruction of the superior vena cava is rare in childhood and adolescence. Its etiology is now mainly iatrogenic. Mediastinal tumors are the main primary causes of the superior vena cava syndrome (SVCS) in childhood and adolescence. The most common mediastinal tumors presenting with the SVCS are the lymph node tumors and especially the lymphosarcomas. About 50% of the mediastinal tumors are primary in the mediastinum. Early treatment is designed to cause a rapid shrinking of the tumor and should not be delayed by an overly diligent pursuit of the diagnosis. Treatment should consist of a combination of radiation therapy, chemotherapy, and steroids. Surgery should be limited to obtaining tissue for diagnosis, except when the tumor is localized to the mediastinum and is completely resectable. One hundred and seventy two children and adolescents with the SVCS are reviewed and three patients are added.
    Journal of Pediatric Surgery 07/1982; 17(3):290-5. DOI:10.1016/S0022-3468(82)80015-8 · 1.39 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory syndrome with prolonged high fever, hepatosplenomegaly and characteristic laboratory findings. HLH may be inherited (primary) or may be secondary to any severe infection, malignancy or rheumatologic condition. The last several years have witnessed an explosion in our understanding of HLH. Of the inherited causes for which the underlying genetic cause is known, most involve abnormalities of proteins important in the exocytosis cytolytic pathway, whereby perforin and granzymes are delivered to a target cell to induce apoptosis. The exact mechanisms underlying this process remain unclear. However, when a known genetic defect is not present, the diagnosis of HLH is still made on a constellation of clinical features and good clinical judgment. Rapid diagnosis is crucial, as early therapy with immunosuppressive agents and/or proapoptotic chemotherapy can be life-saving. This article examines recent advances in our understanding of the pathophysiology, clinical features, diagnosis, etiology and treatment of HLH, as well as the challenges that lie ahead.
    Expert Review of Clinical Immunology 01/2010; 6(1):137-54. DOI:10.1586/eci.09.58 · 2.48 Impact Factor
Show more