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#13132 - 02/10/07 12:35 PM Re: Ich and Epilepsy?
mymegan Offline
Junior Member

Registered: 02/10/07
Posts: 4
Loc: Pleasant Grove, UT, USA
My daughter has lameller ichthyosis. She is four and a half years old. about a year ago, she had a couple of seizures, ambulanced to the hospital, nothing prior to that, nor since. Certainly don't seem to qualify as the recurance associated with epilepsy, but definitely enough to make me tremble at the thought of it happening again. She is my little girl, strong and brilliant. Horrifying whenever any new obstacle presents itself which we are not able to fully control. Let me know of any new discoveries.

Thank you

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#13133 - 02/11/07 04:34 AM Re: Ich and Epilepsy?
threerxli Offline
Member

Registered: 01/14/03
Posts: 515
Loc: virginia
I found this article on the Emedicine website, its easier to access ifyou type in emedicine and then RUD in your search bar, rather than registering with the site. KALLMANS at the ame site might also interest you. This and Kallmans is linked to XLI. You can have RUD and KALLMANS without having X linked ichthyosis, however it mainly occurs together. I think from the research I have been readng about, that there are so many variations of the "X" chromosome, that XLI can sometimes (and rarely) produce additional symptoms. Most men and boys that have XLI only have dry skin and no other symptoms.
Background: Rud syndrome, previously considered a rare recessive disorder marked by ichthyosis, hypogonadism, mental retardation, epilepsy, and dwarfism, is now classified as an ichthyosis. The contemporary ichthyosis classification reassigns it as a neuroichthyosis with cutaneous findings most similar to those observed in X-linked recessive ichthyosis, rather than a distinct clinical entity. Although ichthyosis and hypogonadism are the predominant features, neurologic deficits vary, suggesting genetic heterogeneity.


Pathophysiology: The pathophysiology of Rud syndrome is unknown. Defects in steroid sulfatase and Kallman loci on the X chromosome have been identified; however, these defects were not tested in most of the earlier cases. Cases suggestive of an autosomal recessive inheritance pattern have also been reported.


Frequency:


Internationally: The prevalence is rare worldwide.
Mortality/Morbidity: Mortality and morbidity depend on the presence and the severity of associated findings.

Race: No racial predilection is known.

Sex: Cases in which steroid sulfatase deficiency has been identified involved boys; however, overall, no male predilection is apparent, as anticipated by an X-linked recessive genodermatosis. This observation could be explained by the fact that a defect in an autosomal recessive gene may also be present (some cases suggestive of this inheritance pattern have been reported) or that such heterogeneity of clinical and genetic findings exists and some patients who are thought to have Rud syndrome really have different disorders manifesting with clinical changes similar to those of Rud syndrome.

Age: The disease manifests with clinical signs and symptoms at birth or shortly thereafter.

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#13134 - 02/12/07 12:40 AM Re: Ich and Epilepsy?
swebblie Offline
Member

Registered: 11/08/06
Posts: 48
Loc: Wollongong, Australia
Thanks threexli,
Thanks for looking up the information for me, you are so helpful and I know I can always trust your research. I have read the mentioned article on emedicine and quite a lot of others when I searched for epilepsy and dry skin.
I found that trick too, using Google to search instead of joining the site. I wonder why they bother with asking you to join their site as you can do a search at their site to find the articles and then copy and paste into Google which will then find the article for you.
I guess they are trying to make money...

Anyway sorry for rambling.
Sarah.

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#13135 - 02/12/07 02:52 AM Re: Ich and Epilepsy?
threerxli Offline
Member

Registered: 01/14/03
Posts: 515
Loc: virginia
Well, honestly, I used to have all of this stuff memorized..but now it feels scrammbled. Maybe just too much information is jumbled in my head, so now I try to just Quote everything so I dont get it wrong. The problem with XLI, is that for the most part its only dry skin. But because of where the chromosome is broken, the material on either side can be affected and cause additional problems. Jordan had an abnormal EEG, it was sleep deprived, but they determined it was not seizures. We had this done about 4 years ago when he was 8 or nine. Dont we all wish we could just get the answers so much faster? I remember all the testing we did, and all of the doctors I saw, just sent us in circles. Even though I know more about what could be affecting my son LOL , theres not much we can do, other than what we were already doing. I hope your search discovers more, and then you can post what they find. I need to know LOL..

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