Dramatic Efficacy of Interferon and Vemurafenib on Psychiatric Symptoms Revealing -Mutated Erdheim-Chester Disease: A Case Report.
Fiche publication
Date publication
juillet 2022
Journal
Frontiers in immunology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BONNOTTE Bernard
Tous les auteurs :
Razanamahery J, Abdallahoui M, Chabridon G, Fromont A, Tarris G, Idbaih A, Comby PO, Godard F, Haroche J, Audia S, Bonnotte B
Lien Pubmed
Résumé
Erdheim-Chester disease (ECD) is a rare condition with underestimated neurological involvement. Mild psychiatric symptoms such as mood swings have been rarely described in the clinical spectrum of neuro-ECD. We here describe the first patient with psychiatric manifestations of delirium revealing ECD with neurological involvement with favorable evolution under interferon followed by BRAF inhibitor monotherapy. An 81-year-old woman was referred to the hospital because of delirium and severe cognitive impairment associated with a cerebellar syndrome. Brain magnetic resonance imaging showed "FLAIR-changes" lesions in the pons and upper cerebellum peduncles. Blood and cerebrospinal fluid (CSF) analyses showed normal results except for an elevated neopterin level in the CSF. Whole-body CT scan (FDG-PET) showed peri-nephric fat infiltration and aorta adventitia sheathing with radiotracer uptake in the pons, vessels, peri-nephric fat, and bone lesions, which was characteristic of ECD. The diagnosis was confirmed on perirenal tissue biopsy, which also showed a mutation. Treatment with interferon resulted in the resolution of delirium, and treatment with BRAF inhibitor subsequently resulted in a partial remission of all active sites. This case highlights that delirium can be the first manifestation of neurodegenerative ECD. ECD should be screened in unexplained psychiatric features as interferon and targeted therapy appear to be effective in this situation.
Mots clés
BRAF inhibitor, Erdheim-Chester disease, cerebellar syndrome, histiocytosis, interferon, psychosis
Référence
Front Immunol. 2022 07 6;13:918613