Factor XI Deficiency in West Algeria: A Case Report and Literature Review
ثبت نشده
چکیده
Factor XI deficiencies are rare. Initially, they were described only in Ashkenazy Jews with two types of characteristic gene mutation. Now, 152 mutations have been identified, mostly in non-Jewish population. We report the case of a deficiency identified in Arabic young girl living in West Algeria; gene sequences showed a type II mutation, frequent in Ashkenazy Jews. May be it is coincidence; but it is possible that this finding is related to the migratory story of this region.
منابع مشابه
Pyrexia in a Patient with Megaloblastic Anemia: A Case Report and Literature Review
Deficiency of vitamin B12 and/or folic acid as a cause of pyrexia, though known, is rarely reported in literature. We aimed to report a case in a 51 year old woman, who presented with fever and pancytopenia and was diagnosed to have megaloblastic anemia secondary to vitamin B12 and folate deficiency. The pyrexia subsided following the intramuscular injection of vitamin B12 and oral folic acid a...
متن کاملSeventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature
Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenor...
متن کاملPeriodontal Involvement in Leukocyte Adhesion Deficiency: Review of the Literature and a Case Report
Objective: Leukocyte adhesion deficiency(LAD) is a scarce, autosomal recessive inherited disorder . LAD-I which is the most common type occurs due to mutations on the CD18 gene. This mutation leads to absence or severe reduction of leukocyte cell surface expression of ß2 integrin molecules which are necessary for the adhesion of the leukocytes to the endothelial cells, transendothelial mi...
متن کاملHip Arthroplasty and its Revision in a Child: Case Report and Literature Review
Juvenile idiopathic arthritis is the leading cause of hip replacement in young children. However, arthroplasty in this population is challenging with several concerns about quality of the growing bone, young age for revision surgery, and difficulties in potential several revisions. In this study we introduce a case of a 12-year old who is one of the youngest patients to undergo revision hip art...
متن کاملPellagra and Pellagroid reaction caused by drugs: A case report and review of the literature
This is a report of a 40- year- old woman presented to our outpatient dermatology clinic. She had a 40- day history of sudden development of skin lesions on the exposed. Dermatologic examination revealed relatively limited brown – reddish plaques on the hands, feet, face, one elbow and groin regions. She has been taking carbamazepine (200 mg/ day) for 13 years. Otherwise, no serious problems we...
متن کامل