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Coexistence of intracranial Langerhans cell histiocytosis and Erdheim-Chester disease in a pediatric patient: a case report

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Abstract

Introduction

The co-occurrence of Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) is extremely rare and almost all cases were reported in adults.

Case report

We describe a case of intracranial LCH and ECD that was confirmed by histopathological and molecular studies. A three-year-old boy presented with headache and right exophthalmos and brain magnetic resonance images (MRI) revealed multiple intracranial tumors. Whole body MRI showed osteolytic lesions typical of LCH in flat bones and osteosclerotic changes typical of ECD in long bones.

Discussion

Histologically, the biopsy samples from the posterior fossa and occipital skull mass revealed areas of both LCH and ECD. Immunohistochemically, the LCH contained CD1a-positive Langerhans cells and the ECD had CD1a-negative, CD68-positive foamy histiocytes. BRAF V600E mutations were detected in both the LCH and ECD areas. The coexistence of LCH and ECD in the same biopsy and the BRAF V600E mutation status in both histologic types support the recent re-classification of the histiocytic disorder into LCH, ECD, and “mixed histiocytosis”, which reflects tumorigenesis for all three from a common progenitor cell.

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Authors and Affiliations

  1. Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 135-710, South Korea

    Seokhwi Kim, Minju Lee & Yeon-lim Suh

  2. Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea

    Hyung Jin Shin

  3. Department of Nuclear Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea

    Joohee Lee

Authors
  1. Seokhwi Kim
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  2. Minju Lee
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  3. Hyung Jin Shin
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  4. Joohee Lee
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  5. Yeon-lim Suh
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Correspondence to Yeon-lim Suh.

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Kim, S., Lee, M., Shin, H.J. et al. Coexistence of intracranial Langerhans cell histiocytosis and Erdheim-Chester disease in a pediatric patient: a case report. Childs Nerv Syst 32, 893–896 (2016). https://doi.org/10.1007/s00381-015-2929-6

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  • DOI: https://doi.org/10.1007/s00381-015-2929-6

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