Erdheim-Chester disease presenting at the central nervous system
Autops. Case Rep
;
11: e2021321, 2021. graf
Article
in English
| LILACS
| ID: biblio-1285419
ABSTRACT
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Erdheim-Chester Disease
Type of study:
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Autops. Case Rep
Journal subject:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Year:
2021
Type:
Article
Affiliation country:
United States
Institution/Affiliation country:
St. Josephs University/US
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