منابع مشابه
Síndrome de Cogan Reese Cogan Reese syndrome
Estudo realizado para descrever um caso da síndrome de Cogan Reese. Paciente do sexo feminino, 55 anos, com diagnóstico de síndrome de Cogan Reese. Melhor acuidade visual de 0,67 em olho direito e 0,2 em olho esquerdo. Pelo exame biomicroscópico não se detectou anormalidades no olho direito. No olho esquerdo haviam nódulos pigmentados na superfície anterior da íris, irregularidades corneanas e ...
متن کاملFragile X Syndrome Síndrome de X
190 Abstract Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of FMRP, a protein involved in synaptic plasticity and maturation. Individuals with FXS present w...
متن کاملSíndrome de reiter : relato de caso * Reiter ' s syndrome : a case report
Resumo: Relato de um caso de síndrome de Reiter em paciente jovem, do sexo masculino, com lesões dermatológicas típicas e achado positivo para o antígeno do complexo de histocompatibilidade HLA-B27. O quadro surgiu após infecção intestinal por Salmonella enteritidis, evoluindo com melhora após utilização de tetraciclina, prednisona e indometacina. Episódio recidivante foi tratado com metotrexat...
متن کاملNeuroimaging in Cockayne syndrome.
CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were t...
متن کاملCockayne syndrome: a case report.
A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Boletín Médico del Hospital Infantil de México
سال: 2015
ISSN: 1665-1146
DOI: 10.1016/j.bmhimx.2015.07.008