گزارش دو مورد بیمار مبتلا به سندرم راد

Authors

  • درخشان , محمدرضا
  • مدرسی, نیره
Abstract:

Rud syndrome is a rare disease entity that consists of congenital ichthyosis, mental retardation, hypogonadism, and epilepsy. In this article two cases that are sibling are reported. The parents are relative. The elder one who is a 16-yr old female suffers from sever ichthyosis, hypocalcemic tetany, sever mental and grown retardation, and hypogonadism. In the second patient a 9-yr old male the disease is milder, but generalized ichthyosis , mental retardation , hypogonadism is notifiable. He also is epileptic. His CT scan shows mild cerebral atrophy. Tetany, club foot, acanthosis nigricans are rare manifestation of Rud syndrome that are present in one of our patients. Measurement of steroid sulfatase is an important test that should be carried out in patients suspected to having the Rud syndrome.

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

گزارش 18 مورد بیمار مبتلا به سندرم شیهان

Sheehan’s syndrome has a broad spectrum of clinical and laboratory signs that range from nonspecific symptoms such as malaise, fatigue and anemia to severe hypophyseal insufficiency, which results in coma and death. We collected data from 18 patients diagnosed with Sheehan’s syndrome during the past 10 years. Patients profiles, including history, physical examination, clinical presentation that...

full text

گزارش یک بیمار مبتلا به سندرم آلبرایت

Albright syndrome is a rare condition, usually appears in the early years of life and characterized by bending or thickening of long bones. In girls, of endocrine glands disorders especially precocious puberty are the most common symptoms. Also, Brown pigments in the skin are another sing of this syndrome. Certain mucosal and skin pigments are considerable features of the disease. Etiology and ...

full text

سندرم Lynch -l و گزارش شش مورد بیمار مبتلا

More than two decades ago, Henry T. Lynch reported a hereditary non polyposis colorectal cancer (HNPCC) which is seen in some families with dominant mode of inheritance, also know as Lynch Syndrome type I and II. This form to hereditary colorectal cancer has an early age of onset (Less than 45 years) with predominantly proximal colonic involvement (type I) and can also be associated with extrac...

full text

مقایسه تأثیر وضعیت طاق باز و دمر بر وضعیت تنفسی نوزادان نارس مبتلا به سندرم دیسترس تنفسی حاد تحت درمان با پروتکل Insure

کچ ی هد پ ی ش مز ی هن ه و فد : ساسا د مردنس رد نامرد ي سفنت سرتس ي ظنت نادازون داح ي سکا لدابت م ي و نژ د ي سکا ي د هدوب نبرک تسا طسوت هک کبس اـه ي ناـمرد ي فلتخم ي هلمجزا لکتورپ INSURE ماجنا م ي دوش ا اذل . ي هعلاطم ن فدهاب اقم ي هس عضو ي ت اه ي ندب ي عضو رب رمد و زاب قاط ي سفنت ت ي هـب لاتـبم سراـن نادازون ردنس د م ي سفنت سرتس ي لکتورپ اب نامرد تحت داح INSURE ماجنا درگ ...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 6  issue 4

pages  0- 0

publication date 2000-03

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

No Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023