A Patient with Erdheim-Chester Disease Limited to Central Nervous System

Abstract

Erdheim-Chester disease (ECD) is a rare, sporadic, non-Langerhans cell histiocytosis, a multisystem disorder, which has higher mortality when presented with CNS involvement. We report a 46-year-old woman who has ECD with exclusive CNS involvement. She presented with intracranial hemorrhage and had a poor response to corticosteroid and interferon. She required multiple debulking procedures and eventually responded well to cobimetinib. She has not had any other organ involvement thus far. This report highlights that CNS involvement may be the only manifestation of ECD and sometimes may require a repeat biopsy with IHC testing for excellent treatment outcomes.

Keywords: CNS; Erdheim-Chester disease (ECD); histiocytosis.

Figure 1

Patient’s Brain MRI. (A–C) show brain MRI at the time of initial presentation in 2013, (A) is T2, (B) is T1 FLAIR, and (C) is T2 FLAIR. (D–F) is brain MRI 3 months after the patient’s initial craniotomy. (D) is T2, (E) is T1 FLAIR, and (F) is T2 FLAIR. (G–I) is 7 years after initial MRI, (after the patient was on cobimetinib for 6 months). (G) is T2, (H) is T1 FLAIR, and (I) is T2 FLAIR. (J–L) are 8 years after initial MRI, (on cobimetinib for 13 months). (J) is T2, (K) is T1 FLAIR and (L) is T2 FLAIR. Single yellow arrows in different figures shows the lesion after biopsy and debulking. In (L), anterior and first arrow is highlighting meningioma in addition to lesion as denoted by 2nd and posterior arrow.

Figure 2

Immunohistochemistry pictures from biopsy in 2019. (A): Hematoxylin and Eosin 200×, areas of histiocytic and monocyte infiltration. (B): Hematoxylin and Eosin 400×, areas of monocyte infiltration consistent with macrophages and monocytes. (C): CD68 Immunohistochemistry 400×, Areas of monocyte infiltration consistent with macrophages and monocytes. (D): H and E stain 400×, areas of monocyte infiltration consistent with macrophages and monocytes.