An Unusual Case of Cerebellar Langerhans Cell Histiocytosis Relapse Post
Bone Marrow Transplant for Systemic Disease
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.