RESUMO
Agenesis of vena cava inferior (AVCI) is a rare congenital malformation with a prevalence of 0.0005-1% in the general population. High level of suspicion is required in young patients with deep vein thrombosis (DVT), particularly bilateral. We present an 8-year-old girl with AVCI presenting as bilateral lower extremity DVT and a review of the literature in pediatric cases with AVCI and DVT.
Assuntos
Malformações Vasculares , Trombose Venosa , Feminino , Humanos , Criança , Veia Cava Inferior/diagnóstico por imagem , Veia Cava Inferior/anormalidades , Trombose Venosa/complicações , Trombose Venosa/diagnóstico , Malformações Vasculares/complicações , Malformações Vasculares/diagnóstico , PrevalênciaRESUMO
Streptococcal toxic shock syndrome is a severe complication of group A streptococci. The production of antiphospholipid antibodies has been associated with streptococcal infections and with autoimmune diseases. Furthermore, streptococcal infections could be a trigger of Behcet's disease. We report a case of a boy who presented antiphospholipid syndrome after streptococcal toxic shock syndrome later he was diagnosed with Behcet's disease.
Assuntos
Síndrome Antifosfolipídica , Síndrome de Behçet , Choque Séptico , Infecções Estreptocócicas , Masculino , Humanos , Síndrome de Behçet/complicações , Síndrome de Behçet/diagnóstico , Síndrome Antifosfolipídica/complicações , Síndrome Antifosfolipídica/diagnóstico , Choque Séptico/diagnóstico , Choque Séptico/etiologia , Infecções Estreptocócicas/complicações , Infecções Estreptocócicas/diagnóstico , Anticorpos AntifosfolipídeosRESUMO
In the last 10 years, an increased number of patients presenting with acute encephalitis is being observed, a finding that is attributed to autoimmune mechanisms. Despite the fact that autoantibodies usually target the neuronal cell surface or synaptic proteins in the central nervous system (CNS), in many cases these remain undetectable, constituting a future diagnostic and therapeutic challenge. Human herpesvirus-7 (HHV-7) is proven to be a neurotropic virus, causing various neurological complications mostly in the adult population. We present the case of a 10-year-old girl, with confirmed active HHV-7 infection of the CNS, who developed acute seronegative autoimmune encephalitis. To our best knowledge, there is no literature concerning pediatric cases of autoimmune encephalitis following HHV-7 infection.
Assuntos
Anticorpos Antivirais/sangue , Doenças Autoimunes do Sistema Nervoso/líquido cefalorraquidiano , Encéfalo/patologia , Encefalite/líquido cefalorraquidiano , Herpesvirus Humano 7 , Infecções por Roseolovirus/líquido cefalorraquidiano , Autoanticorpos/líquido cefalorraquidiano , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética , RecidivaRESUMO
Barth Syndrome (BTHS) is a rare X-linked recessive inborn error of metabolism, which is characterized by dilated cardiomyopathy, neutropenia, skeletal myopathy and short stature. Barth Syndrome is associated with mutations in the tafazzin (TAZ) gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. Here we report a 5.5-month old boy with BTHS phenotype who carries a novel missense T43P mutation in exon 2 of the TAZ gene.
