RESUMO
Macrophagic myofasciitis (MMF) is an uncommon inflammatory disorder of muscle believed to be due to persistence of vaccine-derived aluminium hydroxide at the site of injection. The condition is characterised by diffuse myalgias, arthralgia and fatigue. We describe a patient with histologically confirmed MMF whose presentation was atypical with left chest and upper limb pain beginning more than 10 years post vaccination. Treatment with steroids led to symptomatic improvement. Although rare, clinicians should consider MMF in cases of atypical myalgia.
Assuntos
Doenças do Sistema Imunitário/induzido quimicamente , Ativação de Macrófagos/efeitos dos fármacos , Músculo Esquelético/efeitos dos fármacos , Miosite/induzido quimicamente , Vacinação/efeitos adversos , Hidróxido de Alumínio/efeitos adversos , Anti-Inflamatórios/uso terapêutico , Feminino , Antígenos de Histocompatibilidade Classe II/análise , Antígenos de Histocompatibilidade Classe II/metabolismo , Humanos , Sistema Imunitário/efeitos dos fármacos , Sistema Imunitário/fisiopatologia , Doenças do Sistema Imunitário/metabolismo , Doenças do Sistema Imunitário/fisiopatologia , Ativação de Macrófagos/fisiologia , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Miosite/metabolismo , Miosite/fisiopatologia , Esteroides/uso terapêutico , Tempo , Fatores de TempoRESUMO
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a newly described form of encephalitis associated with prominent psychiatric symptoms at onset. Recognition of the symptom complex is the key to diagnosis. Most patients with anti-NMDAR encephalitis develop a multistage illness that progresses from initial psychiatric symptoms to memory disturbance, seizures, dyskinesia, and catatonia. Psychiatric manifestations include anxiety, mania, social withdrawal, and psychosis (i.e., delusions, hallucinations, disorganized behavior). The disorder is more common in females (80%), in approximately half of whom it is associated with an underlying ovarian teratoma. Treatment involves immunosuppression, with steroids and intravenous immunoglobulin considered first line. The disorder is particularly relevant to psychiatrists, because most patients are initially seen by psychiatric services. Psychiatrists should consider anti-NMDAR encephalitis in patients presenting with psychosis as well as dyskinesia, seizures, and/or catatonia, especially if there is no history of a psychiatric disorder. We present the case of a 37-year-old woman who demonstrated many of the key clinical features of this potentially treatable disorder.
Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato , Anticorpos Monoclonais Murinos/administração & dosagem , Eletroencefalografia/métodos , Neoplasias Ovarianas , Receptores de N-Metil-D-Aspartato/imunologia , Teratoma , Adulto , Encefalite Antirreceptor de N-Metil-D-Aspartato/sangue , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Encefalite Antirreceptor de N-Metil-D-Aspartato/etiologia , Encefalite Antirreceptor de N-Metil-D-Aspartato/psicologia , Encefalite Antirreceptor de N-Metil-D-Aspartato/terapia , Autoanticorpos/sangue , Autoanticorpos/líquido cefalorraquidiano , Catatonia/etiologia , Diagnóstico Precoce , Feminino , Glucocorticoides/administração & dosagem , Humanos , Fatores Imunológicos/administração & dosagem , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/diagnóstico , Transtornos Psicóticos/etiologia , Rituximab , Convulsões/etiologia , Teratoma/complicações , Teratoma/diagnóstico , Resultado do TratamentoRESUMO
Ataxia telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder that arises because of mutations in the ATM gene. The 5762ins137 A-->G point mutation activates a cryptic splice donor site resulting in a 137 bp intronic insert being aberrantly spliced into the ATM transcript. However, normal ATM transcript also is produced from this affected allele, albeit at significantly reduced levels. An exceptionally mild A-T phenotype occurs as a result of homozygosity for the 5762ins137 mutation because of relative preservation of ATM protein expression/kinase activity.