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گزارش دو مورد بیمار مبتلا به سندرم راد

نویسندگان

  • درخشان , محمدرضا
  • مدرسی, نیره

چکیده

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.

جستجوی کلمه کلیدی

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