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Dramatic Efficacy of Interferon and Vemurafenib on Psychiatric Symptoms Revealing BRAFV600E -Mutated Erdheim-Chester Disease: A Case Report.
Razanamahery, Jérôme; Abdallahoui, Maroua; Chabridon, Guillaume; Fromont, Agnès; Tarris, Georges; Idbaih, Ahmed; Comby, Pierre Olivier; Godard, Francois; Haroche, Julien; Audia, Sylvain; Bonnotte, Bernard.
Afiliación
  • Razanamahery J; Department of Internal Medicine and Clinical Immunology, Dijon University Hospital, Dijon, France.
  • Abdallahoui M; Department of Internal Medicine and Clinical Immunology, Dijon University Hospital, Dijon, France.
  • Chabridon G; Department of Psychiatry, Dijon University Hospital, Dijon, France.
  • Fromont A; Department of Neurology, Dijon University Hospital, Dijon, France.
  • Tarris G; Department of Pathology, Dijon University Hospital, Dijon, France.
  • Idbaih A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Universitaire La Pitié Salpêtrière, DMU Neurosciences, Paris, France.
  • Comby PO; Department of Neuroradiology, Dijon University Hospital, Dijon, France.
  • Godard F; Nuclear Medicine Department, Centre Georges Francois Leclerc, Dijon, France.
  • Haroche J; Department of Internal Medicine 2, National Reference Center for Histiocytosis, Pitié-Salpétrière Hospital, Paris, France.
  • Audia S; Department of Internal Medicine and Clinical Immunology, Dijon University Hospital, Dijon, France.
  • Bonnotte B; Department of Internal Medicine and Clinical Immunology, Dijon University Hospital, Dijon, France.
Front Immunol ; 13: 918613, 2022.
Article en En | MEDLINE | ID: mdl-35874752
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 (18FDG-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 BRAFV600E 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.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Delirio / Enfermedad de Erdheim-Chester Tipo de estudio: Diagnostic_studies Límite: Aged80 / Female / Humans Idioma: En Revista: Front Immunol Año: 2022 Tipo del documento: Article País de afiliación: Francia

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Delirio / Enfermedad de Erdheim-Chester Tipo de estudio: Diagnostic_studies Límite: Aged80 / Female / Humans Idioma: En Revista: Front Immunol Año: 2022 Tipo del documento: Article País de afiliación: Francia