A Report of Two Cases of Rud Syndrome
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,...
| Main Authors: | , |
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| Format: | Article |
| Language: | fas |
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Hamadan University of Medical Sciences
2000-03-01
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| Series: | پزشکی بالینی ابن سینا |
| Subjects: | |
| Online Access: | http://sjh.umsha.ac.ir/article-1-1013-en.html |
| _version_ | 1818347356605644800 |
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| author | Mohammadreza Derakhshan Nayyereh Modarresi |
| author_facet | Mohammadreza Derakhshan Nayyereh Modarresi |
| author_sort | Mohammadreza Derakhshan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T17:32:52Z |
| format | Article |
| id | doaj.art-b2e15f55a05c4ee98407708299f66692 |
| institution | Directory Open Access Journal |
| issn | 2588-722X 2588-7238 |
| language | fas |
| last_indexed | 2024-12-13T17:32:52Z |
| publishDate | 2000-03-01 |
| publisher | Hamadan University of Medical Sciences |
| record_format | Article |
| series | پزشکی بالینی ابن سینا |
| spelling | doaj.art-b2e15f55a05c4ee98407708299f666922022-12-21T23:36:59ZfasHamadan University of Medical Sciencesپزشکی بالینی ابن سینا2588-722X2588-72382000-03-016400A Report of Two Cases of Rud SyndromeMohammadreza Derakhshan0Nayyereh Modarresi1 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.http://sjh.umsha.ac.ir/article-1-1013-en.htmlhypogonadism / ichthyosis / mental retardation |
| spellingShingle | Mohammadreza Derakhshan Nayyereh Modarresi A Report of Two Cases of Rud Syndrome پزشکی بالینی ابن سینا hypogonadism / ichthyosis / mental retardation |
| title | A Report of Two Cases of Rud Syndrome |
| title_full | A Report of Two Cases of Rud Syndrome |
| title_fullStr | A Report of Two Cases of Rud Syndrome |
| title_full_unstemmed | A Report of Two Cases of Rud Syndrome |
| title_short | A Report of Two Cases of Rud Syndrome |
| title_sort | report of two cases of rud syndrome |
| topic | hypogonadism / ichthyosis / mental retardation |
| url | http://sjh.umsha.ac.ir/article-1-1013-en.html |
| work_keys_str_mv | AT mohammadrezaderakhshan areportoftwocasesofrudsyndrome AT nayyerehmodarresi areportoftwocasesofrudsyndrome AT mohammadrezaderakhshan reportoftwocasesofrudsyndrome AT nayyerehmodarresi reportoftwocasesofrudsyndrome |