Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding).
نویسندگان
چکیده
Inherited bleeding disorders contribute significantly to the incidence and prevalence of Heavy Menstrual Bleeding (HMB), and contrary to popular belief can present any time during the reproductive years of a woman's life. The following case exemplifies this and is being presented as part of a rare syndrome. The incidence of this syndrome in the general population ranges from 1:500,000 to 1:1000, 000. Besides being rare the presentation was quite uncommon as majority of these cases present with pulmonary fibrosis.
منابع مشابه
Hermansky-Pudlak Syndrome: A Case Report
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrat...
متن کاملCase Report Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.
متن کاملHermansky-pudlak syndrome: report of a case and review of the literature.
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.
متن کاملHermansky-Pudlak Syndrome; a Case Report
PURPOSE To report a case of Hermansky-Pudlak syndrome. CASE REPORT A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosp...
متن کاملAbstract # 197: Multiple Gestation in a Patient with Hermansky-Pudlak Syndrome
197 Multiple Gestation in a Patient with Hermansky-Pudlak Syndrome Abstract Type: Case Report/Case Series Lisa A. Rhodes, M.D.; John J. Kowalczyk, B.Sc.; Bridget M. Marroquin, M.D. Strong Memorial Hospital, University of RochesterType: Case Report/Case Series Lisa A. Rhodes, M.D.; John J. Kowalczyk, B.Sc.; Bridget M. Marroquin, M.D. Strong Memorial Hospital, University of Rochester Hermansky-Pu...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of clinical and diagnostic research : JCDR
دوره 7 9 شماره
صفحات -
تاریخ انتشار 2013