RESUMO
Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the ATP7B gene, which are inherited in an autosomal recessive pattern. Despite all the advances made on pathogenesis, cellular biology, and genetics, to date, WD remains a diagnostic and therapeutic challenge. With this series of cases, we aim to illustrate the main challenges that clinicians may encounter when dealing with patients with WD: the difficulties with clinical diagnosis, the therapeutic management of WD and the indication for advanced therapies, management during pregnancy, and genotype-phenotype correlations.
Assuntos
Degeneração Hepatolenticular , Alelos , Cobre/metabolismo , ATPases Transportadoras de Cobre/genética , Estudos de Associação Genética , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/genética , Degeneração Hepatolenticular/terapia , Humanos , Mutação/genéticaRESUMO
INTRODUCTION: Polymer-coats may peel-off the surface of catheters and devices during endovascular procedures and might lead to brain inflammatory foreign-body reactions. METHODS: We conducted a retrospective, descriptive, single-centre study including all patients with symptomatic intracranial oedematous and contrast-enhancing lesions after any neurointerventional procedure performed in our hospital between 2013 and 2019. RESULTS: From a total of 7446 neurointerventional procedures, 11 cases were identified (9 female, 2 male, median age 47 year-old), with an incidence of 0.14 %. The procedures were therapeutic in all: ten aneurysm embolization/isolation, one acute ischaemic stroke recanalization. Intracranial coils, stent or both were placed in all. Symptoms appeared during the following one day to fourteen months (median of 4.2 weeks). Brain MRI showed oedematous, contrast-enhancing lesions scattered through the vascular territory of the canalized vessel. Brain biopsy confirmed the diagnosis in one case and was supportive in another one. Eight patients received immunosuppression. No treatment was started in two. After a median time of follow-up of 3.5 years, five patients are totally asymptomatic. One patient presents slight weakness. Four patients have remote symptomatic seizures, but they have comorbid lesions (previous stroke, intracranial haemorrhage, biopsy needle-track's gliosis). Follow-up MRI showed significant improvement in all the cases, with complete resolution in five. Non-symptomatic lesion fluctuation was observed in three cases. Two patients experienced symptomatic rebounds. CONCLUSION: Intracranial embolic foreign-body symptomatic reactions are uncommon complications of neurointerventional procedures. Diagnostic angiographies might have lower risk of polymer-embolization than therapeutic procedures. This entity's early recognition enables making proper diagnosis and treatment decisions.
Assuntos
Procedimentos Endovasculares/efeitos adversos , Reação a Corpo Estranho/diagnóstico por imagem , Embolia Intracraniana/diagnóstico por imagem , Procedimentos Neurocirúrgicos/efeitos adversos , Complicações Pós-Operatórias/diagnóstico por imagem , Centros de Atenção Terciária , Adulto , Procedimentos Endovasculares/instrumentação , Feminino , Reação a Corpo Estranho/etiologia , Reação a Corpo Estranho/cirurgia , Humanos , Embolia Intracraniana/etiologia , Embolia Intracraniana/cirurgia , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos/instrumentação , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Estudos RetrospectivosRESUMO
â¢Acute management of SLEs differs from usual therapy in classic stroke patients.â¢IV L-Arginine should be administered urgently in the setting of a SLE.â¢If mental status is altered, an EEG should be performed to rule out a non-convulsive status.
Assuntos
Malformações Arteriovenosas/genética , Capilares/anormalidades , Mutação , Mancha Vinho do Porto/genética , Medula Espinal/diagnóstico por imagem , Proteína p120 Ativadora de GTPase/genética , Adulto , Malformações Arteriovenosas/diagnóstico por imagem , Capilares/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Mancha Vinho do Porto/diagnóstico por imagemRESUMO
Narcolepsy-type 1 is a neurological sleep-disorder caused by a selective loss of hypothalamic orexin/hypocretin-producing neurons whose underlying mechanism is considered to be immune-mediated. We report the case of a 16â¯year-old girl with excessive daytime sleepiness, hypnagogic/hypnopompic hallucinations and cataplexy, fulfilling narcolepsy-type 1 diagnostic criteria. She was HLA-DQB1*06:02/DQA1*01:02 positive. CSF analysis demonstrated positive IgG oligoclonal bands, pleocytosis and hypocretin-1 below detection limit. Other autoimmune processes were excluded, including autoimmune encephalitis. After treatment with intravenous immunoglobulins sleep-related hallucinations transiently improved for a month. This case's CSF inflammatory findings support the role of neuroinflammation in narcolepsy-type 1 development in genetically predisposed patients.
Assuntos
Leucocitose/líquido cefalorraquidiano , Leucocitose/diagnóstico , Narcolepsia/líquido cefalorraquidiano , Narcolepsia/diagnóstico , Bandas Oligoclonais/líquido cefalorraquidiano , Adolescente , Biomarcadores/líquido cefalorraquidiano , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Leucocitose/tratamento farmacológico , Narcolepsia/tratamento farmacológicoAssuntos
Arteriosclerose Intracraniana/complicações , Neurofibromatose 1/complicações , Siderose/complicações , Adulto , Humanos , Arteriosclerose Intracraniana/diagnóstico por imagem , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Neurofibromatose 1/diagnóstico por imagem , Siderose/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Progressive multifocal leukoencephalopathy (PML) is an opportunistic infection of the central nervous system caused by JC virus. Only ten cases of PML have been reported so far in liver transplant recipients. We present a case of liver posttransplantation PML with characteristic clinical and brain MRI findings, but with an atypical late onset, developed 11 years after transplantation and after single-drug, long-term (8 years), and low-dose (750 mg twice a day) immunosuppression with mycophenolate mofetil (MMF). This is the latest onset of PML associated to liver transplant reported. The present case should help physicians to be aware of PML after transplantation, even in the long term and even under low doses of immunosuppressants, especially MMF.