Erdheim-Chester disease presenting at the central nervous system
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis (LCH) that affects different body systems. It was recently recognized as a neoplastic disorder after identifying an activating mutation of the MAPK pathway. Neurological presentations of ECD are rare. We present a case of a 35-year-...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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University of São Paulo
2021-09-01
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| Series: | Autopsy and Case Reports |
| Subjects: | |
| Online Access: | https://www.revistas.usp.br/autopsy/article/view/190546 |
| _version_ | 1818977670721961984 |
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| author | Sydney Fasulo Mina Fransawy Alkomos Rovena Pjetergjoka Erinie M Mekheal Sharon Awasthi Sahithi Chittamuri Vinod Kumar Mehandar Kumar Amer Akmal Michael Maroules |
| author_facet | Sydney Fasulo Mina Fransawy Alkomos Rovena Pjetergjoka Erinie M Mekheal Sharon Awasthi Sahithi Chittamuri Vinod Kumar Mehandar Kumar Amer Akmal Michael Maroules |
| author_sort | Sydney Fasulo |
| collection | DOAJ |
| description | Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis (LCH) that affects different body systems. It was recently recognized as a neoplastic disorder after identifying an activating mutation of the MAPK pathway. Neurological presentations of ECD are rare. We present a case of a 35-year-old male who presented to the emergency department with neck pain, headache and vomiting for 2 months; MRI showed multiple heterogeneous intracranial masses. Neurosurgery performed a suboccipital craniotomy, partially resected the cerebellar mass, and placed a parietal to frontal shunt catheter. Biopsy results from the cerebellar mass demonstrated cerebellar tissue involved by a diffuse proliferation of foamy histiocytes and spindle cells admixed with prominent lymphoplasmacytic infiltrate and positive for CD68, CD163, Factor XIIIa and Fascin. PET scan showed hypermetabolic uptake within the medullary portions of the diffuse abnormal lesions of the distal femurs, tibias, and fibulas, and cardiac MRI was nonsignificant. The patient was started on vemurafenib and continued to show improvement in a 3-month outpatient follow-up. |
| first_indexed | 2024-12-20T16:31:26Z |
| format | Article |
| id | doaj.art-cdb24cdbdb2d4c4dbbd50cac05044564 |
| institution | Directory Open Access Journal |
| issn | 2236-1960 |
| language | English |
| last_indexed | 2024-12-20T16:31:26Z |
| publishDate | 2021-09-01 |
| publisher | University of São Paulo |
| record_format | Article |
| series | Autopsy and Case Reports |
| spelling | doaj.art-cdb24cdbdb2d4c4dbbd50cac050445642022-12-21T19:33:16ZengUniversity of São PauloAutopsy and Case Reports2236-19602021-09-0111Erdheim-Chester disease presenting at the central nervous systemSydney Fasulo0Mina Fransawy Alkomos1Rovena Pjetergjoka2Erinie M Mekheal3Sharon Awasthi4Sahithi Chittamuri5Vinod Kumar6Mehandar Kumar7Amer Akmal8Michael Maroules9St. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USASt. Joseph’s University, Medical Center, Internal Medicine Department, Paterson, NJ, USASt. Joseph’s University, Medical Center, Internal Medicine Department, Paterson, NJ, USASt. Joseph’s University, Medical Center, Internal Medicine Department, Paterson, NJ, USASt. Joseph’s University, Medical Center, Internal Medicine Department, Paterson, NJ, USASt. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USASt. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USASt. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USASt. Joseph’s University, Medical Center, Pathology Department, Paterson, NJ, USASt. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USAErdheim-Chester disease is a rare non-Langerhans cell histiocytosis (LCH) that affects different body systems. It was recently recognized as a neoplastic disorder after identifying an activating mutation of the MAPK pathway. Neurological presentations of ECD are rare. We present a case of a 35-year-old male who presented to the emergency department with neck pain, headache and vomiting for 2 months; MRI showed multiple heterogeneous intracranial masses. Neurosurgery performed a suboccipital craniotomy, partially resected the cerebellar mass, and placed a parietal to frontal shunt catheter. Biopsy results from the cerebellar mass demonstrated cerebellar tissue involved by a diffuse proliferation of foamy histiocytes and spindle cells admixed with prominent lymphoplasmacytic infiltrate and positive for CD68, CD163, Factor XIIIa and Fascin. PET scan showed hypermetabolic uptake within the medullary portions of the diffuse abnormal lesions of the distal femurs, tibias, and fibulas, and cardiac MRI was nonsignificant. The patient was started on vemurafenib and continued to show improvement in a 3-month outpatient follow-up.https://www.revistas.usp.br/autopsy/article/view/190546Erdheim-Chester Diseasenon-Langerhans cell histiocytosisand Cerebellar neoplasms |
| spellingShingle | Sydney Fasulo Mina Fransawy Alkomos Rovena Pjetergjoka Erinie M Mekheal Sharon Awasthi Sahithi Chittamuri Vinod Kumar Mehandar Kumar Amer Akmal Michael Maroules Erdheim-Chester disease presenting at the central nervous system Autopsy and Case Reports Erdheim-Chester Disease non-Langerhans cell histiocytosis and Cerebellar neoplasms |
| title | Erdheim-Chester disease presenting at the central nervous system |
| title_full | Erdheim-Chester disease presenting at the central nervous system |
| title_fullStr | Erdheim-Chester disease presenting at the central nervous system |
| title_full_unstemmed | Erdheim-Chester disease presenting at the central nervous system |
| title_short | Erdheim-Chester disease presenting at the central nervous system |
| title_sort | erdheim chester disease presenting at the central nervous system |
| topic | Erdheim-Chester Disease non-Langerhans cell histiocytosis and Cerebellar neoplasms |
| url | https://www.revistas.usp.br/autopsy/article/view/190546 |
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