A case of disseminated Langerhans cell histiocytosis presenting with necrotizing cervical lymphadenopathy

Antibiotic-resistant cervical lymphadenopathy can be caused by a wide variety of conditions including genetic, autoimmune, metabolic, and malignant diseases and may thus present a considerable diagnostic challenge.

We here present the case of a 5-month-old girl with a 2 week history of fever, progressive bilateral cervical lymphadenopathy, and markedly elevated levels of C-reactive protein.

Prior to the presentation in our hospital she received multiple courses of intravenous antibiotics which remained without effect.

Ultrasound and cervical MR imaging revealed bilateral generalized cervical lymphadenopathy with central necrosis in a submandibular lymph node. The thymus showed several granulomatous lesions. Incision and drainage of the necrotic lymph node was performed together with a diagnostic extirpation of lymphatic tissue. Microbiologic cultures of the necrotic material remained sterile. Pathomorphological analysis of the lymph nodes showed extensive interfollicular infiltration with a population of atypical cells with irregular nuclear contours and grooves. Immunohistochemistry demonstrated positive staining for CD1a, S100, CD4, and Langerin, a marker for the Langerhans subtype of immature dendritic cells. Molecular testings for EBV and mycobacteria were negative. Sequencing of the BRAF gene confirmed the presence of the oncogenic V600E mutation and the diagnosis of Langerhans cell histiocytosis, a rare monoclonal disease of a subtype of dendritic cells was made. BRAF-V600E point mutations occur in approximately 50 – 60% of LHC cases and allow selective targeting of the tumor cells with the kinase inhibitor Vemurafenib.

This case highlights the importance of a careful interdisciplinary workup in patients with antibiotic-resistant cervical lymphadenopathy.

Publication History

Publication Date:
18 April 2018 (online)