Ataxia-Telangiectasia: Reporte de caso

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Tumor fibroso solitario de la region parotidea. Reporte de un caso y revisión de la literatura

RESUMEN El tumor fibroso solitario es una entidad bien establecida, comúnmente localizada en la pleura, aunque recientemente se ha descrito en otras localizaciones, incluyendo la región de cabeza y cuello, en donde se presenta como una lesión bien circunscrita y de crecimiento lento. Debido a su baja frecuencia se puede confundir con otras neoplasias de esta área, por lo que las características...

متن کامل

IDientes de Capdepont - un Defecto de Dentina Hereditario. Reporte de Caso y Revisión de la Literatura

Dentinogenesis imperfecta is an autosomal dominant genetic disorder with abnormal dentin structure affecting both primary and permanent dentitions leading to discolouration and attrition of teeth. Diagnosis is usually based on family history, a detailed clinical examination and pedigree construction. Treatment involves preservation of teeth, removal of infection, restoration of function and est...

متن کامل

Pneumatocele selar a tensión: Reporte de un caso y revisión de la literatura

BACKGROUND Tension pneumocephalus is uncommon after transsphenoidal surgery. There are only few cases reported in the literature in which the air was located at the sellar region exclusively, constituting a sellar pneumocele. In this article, an unusual case of a late onset tension sellar pneumocele is reported. CASE DESCRIPTION A 57-year-old woman consulted because of bitemporal hemianopsia....

متن کامل

Ataxia-telangiectasia

Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...

متن کامل

Ataxia-telangiectasia.

Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia ...

متن کامل

ذخیره 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: Revista de Neuro-Psiquiatria

سال: 2014

ISSN: 1609-7394,0034-8597

DOI: 10.20453/rnp.2014.2197