Cargando…

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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Gupta, Rajesh K., Haque, Anam, Reddy, Thejasvi A., Pérez, Carlos A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9504139/
https://www.ncbi.nlm.nih.gov/pubmed/36135991
http://dx.doi.org/10.3390/neurolint14030056
_version_ 1784796140682608640
author Gupta, Rajesh K.
Haque, Anam
Reddy, Thejasvi A.
Pérez, Carlos A.
author_facet Gupta, Rajesh K.
Haque, Anam
Reddy, Thejasvi A.
Pérez, Carlos A.
author_sort Gupta, Rajesh K.
collection PubMed
description 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.
format Online
Article
Text
id pubmed-9504139
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-95041392022-09-24 A Patient with Erdheim-Chester Disease Limited to Central Nervous System Gupta, Rajesh K. Haque, Anam Reddy, Thejasvi A. Pérez, Carlos A. Neurol Int Case Report 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. MDPI 2022-08-26 /pmc/articles/PMC9504139/ /pubmed/36135991 http://dx.doi.org/10.3390/neurolint14030056 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Gupta, Rajesh K.
Haque, Anam
Reddy, Thejasvi A.
Pérez, Carlos A.
A Patient with Erdheim-Chester Disease Limited to Central Nervous System
title A Patient with Erdheim-Chester Disease Limited to Central Nervous System
title_full A Patient with Erdheim-Chester Disease Limited to Central Nervous System
title_fullStr A Patient with Erdheim-Chester Disease Limited to Central Nervous System
title_full_unstemmed A Patient with Erdheim-Chester Disease Limited to Central Nervous System
title_short A Patient with Erdheim-Chester Disease Limited to Central Nervous System
title_sort patient with erdheim-chester disease limited to central nervous system
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9504139/
https://www.ncbi.nlm.nih.gov/pubmed/36135991
http://dx.doi.org/10.3390/neurolint14030056
work_keys_str_mv AT guptarajeshk apatientwitherdheimchesterdiseaselimitedtocentralnervoussystem
AT haqueanam apatientwitherdheimchesterdiseaselimitedtocentralnervoussystem
AT reddythejasvia apatientwitherdheimchesterdiseaselimitedtocentralnervoussystem
AT perezcarlosa apatientwitherdheimchesterdiseaselimitedtocentralnervoussystem
AT guptarajeshk patientwitherdheimchesterdiseaselimitedtocentralnervoussystem
AT haqueanam patientwitherdheimchesterdiseaselimitedtocentralnervoussystem
AT reddythejasvia patientwitherdheimchesterdiseaselimitedtocentralnervoussystem
AT perezcarlosa patientwitherdheimchesterdiseaselimitedtocentralnervoussystem