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An Unusual Case of Cerebellar Langerhans Cell Histiocytosis Relapse Post Bone Marrow Transplant for Systemic Disease
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  • Simon Nicol,
  • Gemma Petts,
  • Stavros Stivaros,
  • Edmund Cheesman,
  • Robert Wynn,
  • Anthony Penn
Simon Nicol
Royal Manchester Children's Hospital
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Gemma Petts
Royal Manchester Children's Hospital
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Stavros Stivaros
University of Manchester Faculty of Medical and Human Sciences
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Edmund Cheesman
Royal Manchester Children's Hospital
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Robert Wynn
Royal Manchester Children's Hospital
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Anthony Penn
Royal Manchester Children's Hospital
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Abstract

Our patient was diagnosed with multisystemic Langerhans Cell Histiocytosis (LCH) at 5 months of age. She received an allogeneic matched unrelated transplant for refractory haematopoietic disease. 2 years later she represented with raised intracranial pressure and an MRI confirmed the presence of a large left posterior fossa mass with homogenous enhancement and cystic areas, abnormal spectroscopy pattern, minor diffusion restriction and associated triventricular hydrocephalus. With the exception of CD1a and Langerin negativity, in contrast with initial diagnostic skin biopsy, the lesion was consistent with a diagnosis of LCH. BRAF V600E mutation was present on the cerebellar and skin sample.