RÉSUMÉ
INTRODUCTION: Erdheim-Chester disease (ECD) is a rare multisystemic disease characterised by an infiltration of various organs by CD68+ CD1a- histiocytes. The clinical and radiological presentation is very variable. CASE REPORT: We report the case of a 71-year-old woman with ECD which was revealed by neurological and cutaneous manifestations. The diagnosis was confirmed by skin biopsy and the BRAFV600E mutation was identified in skin tissue, leading to the use of combined therapy targeting the RAS-RAF-ERK-MEK pathway. This therapy allowed an improvement of cutaneous manifestations but neurological manifestations lead to death, underlying their notable severity. CONCLUSION: Our case report shows the persistent diagnostic difficulty of the ECD and the particular gravity of neurologic involvement.
Sujet(s)
Maladie d'Erdheim-Chester/complications , Maladie d'Erdheim-Chester/traitement médicamenteux , Thérapie moléculaire ciblée , Maladies du système nerveux/traitement médicamenteux , Maladies du système nerveux/étiologie , Inhibiteurs de protéines kinases/administration et posologie , Sujet âgé , Azétidines/administration et posologie , Association de médicaments , Maladie d'Erdheim-Chester/diagnostic , Femelle , Humains , Mitogen-Activated Protein Kinase Kinases/antagonistes et inhibiteurs , Thérapie moléculaire ciblée/méthodes , Maladies du système nerveux/diagnostic , Pipéridines/administration et posologie , Protéines proto-oncogènes B-raf/antagonistes et inhibiteurs , Protéines proto-oncogènes B-raf/génétique , Maladies rares , Maladies de la peau/diagnostic , Maladies de la peau/étiologie , Maladies de la peau/anatomopathologie , Maladies de la peau/thérapie , Vémurafénib/administration et posologieRÉSUMÉ
INTRODUCTION: Neuropsychiatric signs and MRI abnormalities can occur in patients with phenylketonuria in adulthood. We describe clinical and radiological features of phenylketonuric patients and we discuss the advantage of continuing diet in adulthood. METHOD: We report late onset neuropsychiatric symptoms of four phenylketonuric patients (33-45years) diagnosed in infancy and report the case of a patient (33years) diagnosed with phenylketonuria because of late onset neurological signs. We describe clinical and radiological features of these 5 patients, and their evolution under diet and propose a review of the literature. RESULTS: The main neurological abnormalities in phenylketonuric patients diagnosed in infancy are: brisk reflexes, spastic paraparesis, psychiatric signs that appear 10.5years after the diet arrest. A leukoencephalopathy was present in 93% of cases and 91.7% improve clinically after poor phenylalanine diet reintroduction. In 4 patients, neurological abnormalities (spastic paraparesis, dementia, Parkinsonism) led to the late diagnosis. Two of them had a leukoencephalopathy on brain MRI. Patients had high levels of phenylalanine (above 1500µmol/L) when neuropsychiatric signs occurred. Improvement after diet suggests that hyperphenylalaninemia has a direct toxic effect on the brain. DISCUSSION/CONCLUSION: The long-term follow-up of phenylketonuric patients is mandatory to depict and treat neurological complications in time. Diet reintroduction is efficacious in most cases.
Sujet(s)
Troubles mentaux/étiologie , Troubles mentaux/psychologie , Maladies du système nerveux/étiologie , Maladies du système nerveux/psychologie , Phénylcétonuries/complications , Phénylcétonuries/psychologie , Adolescent , Adulte , Âge de début , Troubles anxieux/étiologie , Troubles anxieux/psychologie , Trouble déficitaire de l'attention avec hyperactivité/étiologie , Trouble déficitaire de l'attention avec hyperactivité/psychologie , Enfant , Enfant d'âge préscolaire , Trouble dépressif/étiologie , Trouble dépressif/psychologie , Femelle , Humains , Nourrisson , Mâle , Maladie de Parkinson/étiologie , Maladie de Parkinson/psychologie , Phénylcétonuries/diétothérapie , Jeune adulteSujet(s)
Démence/étiologie , Méningoencéphalite/étiologie , Syndrome de Susac/complications , Hormones corticosurrénaliennes/usage thérapeutique , Adulte , Produits de contraste , Cyclophosphamide/usage thérapeutique , Angiographie fluorescéinique , Gadolinium , Surdité bilatérale partielle/étiologie , Surdité neurosensorielle/étiologie , Humains , Immunosuppresseurs/usage thérapeutique , Imagerie par résonance magnétique , Mâle , Syndrome de Susac/diagnostic , Syndrome de Susac/traitement médicamenteux , Troubles de la vision/étiologieSujet(s)
Anticorps monoclonaux humanisés/effets indésirables , Syndrome inflammatoire de restauration immunitaire/induit chimiquement , Syndrome inflammatoire de restauration immunitaire/diagnostic , Leucoencéphalopathie multifocale progressive/diagnostic , Imagerie par résonance magnétique , Adulte , Évolution de la maladie , Femelle , Humains , Syndrome inflammatoire de restauration immunitaire/complications , Leucoencéphalopathie multifocale progressive/complications , Sclérose en plaques/complications , Sclérose en plaques/diagnostic , Sclérose en plaques/traitement médicamenteux , NatalizumabRÉSUMÉ
Acute disseminated encephalomyelitis (ADEM) is a rare inflammatory demyelinating disease of the central nervous system, usually occurring after a vaccination or infectious disease. It has been exceptionally described in transplanted patients. The pathophysiology remains incompletely understood. We report the clinical, biological and magnetic resonance imaging (MRI) presentation and evolution of two kidney-transplanted patients with ADEM associated with local Epstein-Barr virus (EBV) reactivation. ADEM may occur in transplanted patients with favorable evolution. Its pathophysiology is uncertain, and the implication of EBV is discussed.
Sujet(s)
Encéphalomyélite aigüe disséminée/immunologie , Encéphalomyélite aigüe disséminée/virologie , Infections à virus Epstein-Barr/immunologie , Herpèsvirus humain de type 4/physiologie , Sujet immunodéprimé/immunologie , Transplantation rénale/effets indésirables , Activation virale , Infections à virus Epstein-Barr/complications , Femelle , Humains , Imagerie par résonance magnétique , Mâle , Adulte d'âge moyen , Activation virale/immunologieRÉSUMÉ
We report the case of a woman with multiple sclerosis who developed a severe neurological condition following natalizumab (NZB) withdrawal and soon after fingolimod (FTY) initiation. FTY was started 3.5 months after a two-year NZB treatment. Fifteen days later, she suffered partial repetitive seizures followed by a tonicoclonic seizure. This was associated with attention difficulties and an increased asthenia. Brain MRI follow-up disclosed large demyelinating active lesions in favour of disease reactivation. This case suggests that FTY introduction may occur less than three months after NZB withdrawal.