Dataset Information

Endoscopic Transsphenoidal Resection of Suprasellar Histiocytosis in a Patient with Erdheim-Chester Disease: A Case Report.

ABSTRACT: Erdheim-Chester disease (ECD) is a rare systemic disease characterized by non-Langerhans histiocytosis. Pituitary involvement, often manifesting as diabetes insipidus, is the most common central nervous system (CNS) lesion. However, significant mass formation compressing the optic apparatus is rarely reported. We present a case of ECD-related suprasellar mass treated with an endoscopic transnasal approach, with emphasis on the surgical strategy and the intraoperative findings. The mass was fibrous, significantly hard, and strongly adhered to the optic nerves, causing visual impairment. A subtotal resection was performed with preserving the adhesion between the mass and the optic nerves, and her visual symptoms improved remarkably after surgery. We highlight the surgical procedure of ECD-related suprasellar mass, from an endoscopic point of view. Due to strong adhesion of the mass to the surrounding optic apparatus and perforators, complete resection may be harmful; judicious mass reduction with preserving such adhesion would contribute to better visual outcomes.

SUBMITTER: Hong S

PROVIDER: S-EPMC8769389 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Endoscopic Transsphenoidal Resection of Suprasellar Histiocytosis in a Patient with Erdheim-Chester Disease: A Case Report.

Hong Sukwoo S Hasegawa Hirotaka H Shin Masahiro M Shinya Yuki Y Saito Nobuhito N

NMC case report journal 20210508 1

Erdheim-Chester disease (ECD) is a rare systemic disease characterized by non-Langerhans histiocytosis. Pituitary involvement, often manifesting as diabetes insipidus, is the most common central nervous system (CNS) lesion. However, significant mass formation compressing the optic apparatus is rarely reported. We present a case of ECD-related suprasellar mass treated with an endoscopic transnasal approach, with emphasis on the surgical strategy and the intraoperative findings. The mass was fibro ...[more]

PMID: 35079452

Similar Datasets

Project description:IntroductionErdheim-Chester disease (ECD) is a rare disease that belongs to the group of Dendritic and histiocytic neoplasms. Only 2000 cases have been reported worldwide. It can present with a wide range of symptoms, making a differential diagnosis especially difficult. The primary and most important diagnostic tool is a biopsy of the affected organ/tissue. Nowadays the analysis of different mutations affecting the BRAF and MAPK pathways makes it possible to use targeted treatments, such as vemurafenib, dabrafenib, or cobimetinib.ObjectiveOur aim is to present the results of three male patients treated in our hematology department.ResultsOur BRAF mutation-positive patient presented with retroperitoneal tissue proliferation and diabetes insipidus. The initial therapy of choice was dabrafenib. After 3 months of treatment, 18F-fluoro-deoxyglucose positron emission tomography (FDG-PET)/computed tomography (CT) scans showed regression, and after 2 years of treatment, no disease activity was detected. In our second patient, a recurrent febrile state (not explained by other reasons) and diabetes insipidus suggested the diagnosis. A femoral bone biopsy confirmed BRAF-negative ECD. The first-line therapy was interferon-alpha. After 3 months of treatment, no response was observed on 18FDG-PET/CT, and treatment with cobimetinib was started. The control 18FDG-PET/CT imaging was negative. Our third patient was evaluated for dyspnea, and a CT scan showed fibrosis with hilar lymphadenomegaly. A lung biopsy confirmed BRAF-negative ECD. We started treatment with interferon-alpha, but unfortunately, no improvement was observed. Second-line treatment with cobimetinib resulted in a partial metabolic response (PMR) according to control 18FDG-PET/CT.ConclusionsOur results demonstrate that an appropriately chosen treatment can lead to a good therapeutic response, but dose reduction may be necessary due to side effects. With advanced targeted therapeutic treatment options, survival and quality of life are significantly improved.

Dataset Information

Endoscopic Transsphenoidal Resection of Suprasellar Histiocytosis in a Patient with Erdheim-Chester Disease: A Case Report.

Publications

Endoscopic Transsphenoidal Resection of Suprasellar Histiocytosis in a Patient with Erdheim-Chester Disease: A Case Report.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets