ABSTRACT
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.
Subject(s)
Erdheim-Chester Disease/complications , Erdheim-Chester Disease/drug therapy , Molecular Targeted Therapy , Nervous System Diseases/drug therapy , Nervous System Diseases/etiology , Protein Kinase Inhibitors/administration & dosage , Aged , Azetidines/administration & dosage , Drug Therapy, Combination , Erdheim-Chester Disease/diagnosis , Female , Humans , Mitogen-Activated Protein Kinase Kinases/antagonists & inhibitors , Molecular Targeted Therapy/methods , Nervous System Diseases/diagnosis , Piperidines/administration & dosage , Proto-Oncogene Proteins B-raf/antagonists & inhibitors , Proto-Oncogene Proteins B-raf/genetics , Rare Diseases , Skin Diseases/diagnosis , Skin Diseases/etiology , Skin Diseases/pathology , Skin Diseases/therapy , Vemurafenib/administration & dosageABSTRACT
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.
Subject(s)
Mental Disorders/etiology , Mental Disorders/psychology , Nervous System Diseases/etiology , Nervous System Diseases/psychology , Phenylketonurias/complications , Phenylketonurias/psychology , Adolescent , Adult , Age of Onset , Anxiety Disorders/etiology , Anxiety Disorders/psychology , Attention Deficit Disorder with Hyperactivity/etiology , Attention Deficit Disorder with Hyperactivity/psychology , Child , Child, Preschool , Depressive Disorder/etiology , Depressive Disorder/psychology , Female , Humans , Infant , Male , Parkinson Disease/etiology , Parkinson Disease/psychology , Phenylketonurias/diet therapy , Young AdultSubject(s)
Dementia/etiology , Meningoencephalitis/etiology , Susac Syndrome/complications , Adrenal Cortex Hormones/therapeutic use , Adult , Contrast Media , Cyclophosphamide/therapeutic use , Fluorescein Angiography , Gadolinium , Hearing Loss, Bilateral/etiology , Hearing Loss, Sensorineural/etiology , Humans , Immunosuppressive Agents/therapeutic use , Magnetic Resonance Imaging , Male , Susac Syndrome/diagnosis , Susac Syndrome/drug therapy , Vision Disorders/etiologySubject(s)
Antibodies, Monoclonal, Humanized/adverse effects , Immune Reconstitution Inflammatory Syndrome/chemically induced , Immune Reconstitution Inflammatory Syndrome/diagnosis , Leukoencephalopathy, Progressive Multifocal/diagnosis , Magnetic Resonance Imaging , Adult , Disease Progression , Female , Humans , Immune Reconstitution Inflammatory Syndrome/complications , Leukoencephalopathy, Progressive Multifocal/complications , Multiple Sclerosis/complications , Multiple Sclerosis/diagnosis , Multiple Sclerosis/drug therapy , NatalizumabABSTRACT
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.
Subject(s)
Encephalomyelitis, Acute Disseminated/immunology , Encephalomyelitis, Acute Disseminated/virology , Epstein-Barr Virus Infections/immunology , Herpesvirus 4, Human/physiology , Immunocompromised Host/immunology , Kidney Transplantation/adverse effects , Virus Activation , Epstein-Barr Virus Infections/complications , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Virus Activation/immunologyABSTRACT
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.
