Headache: A Presentation of Pompe Disease; A Case Report

headache: a presentation of pompe disease; a case report

pompe disease, also termed glycogen storage disease type ii or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (gaa), the glycogen degrading lysosomal enzyme. as a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. in pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...

Pompe Disease: A Case Presentation.

The unusual presentation of genital Crohn’s disease in a patient with breast cancer: A case report

Cutaneous Crohn’s disease (CCD) is a relatively rare disease. Two-thirds of the affected patients are female with a mean age of onset of 35 years. CCD is divided into a genital type and an extra-genital type, each with their own unique different clinical manifestations. The usual presentation of genital Crohn’s disease (CD) is in the form of erythema and edema of the labia and scrotum. Here, we...

Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report

Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency. The current treatment is enzyme replacement therapy, which may slow down the disease progression. Sometimes, the clinical presentation can be...

From a simple chronic headache to neurobrucellosis: a case report

 Brucellosis is an infectious disease with high incidence in Iran. Neurobrucellosis is a focal complication of brucellosis affecting both central and peripheral nervous system presenting with a varieties of signs and symptoms. The most reported manifestations are meningitis and meningoencephalitis. In this report, we will describe a case of a young woman affected by neurobrucellosis presen...

a comparison of linguistic and pragmatic knowledge: a case of iranian learners of english

در این تحقیق دانش زبانشناسی و کاربردشناسی زبان آموزان ایرانی در سطح بالای متوسط مقایسه شد. 50 دانش آموز با سابقه آموزشی مشابه از شش آموزشگاه زبان مختلف در دو آزمون دانش زبانشناسی و آزمون دانش گفتار شناسی زبان انگلیسی شرکت کردند که سوالات هر دو تست توسط محقق تهیه شده بود. همچنین در این تحقیق کارایی کتابهای آموزشی زبان در فراهم آوردن درون داد کافی برای زبان آموزان ایرانی به عنوان هدف جانبی تحقیق ...