Tuberous Sclerosis and US

This time, I want to draw attention to a small study with the purpose of invastigating wether OCT (optical coherence tomography) can detect early vigabatrin-induced retinal toxicity in children.       You would need subscription of Elsevier or Sience Direct to be able to read the full-text-version. You can only find a link to the abstract here:     Optical coherence tomography to monitor vigabatrin toxicity in children     I don´t have the monetary power to buy all possibly interesting articles, so I can´t tell you more about the article then what is written in the abstract, and THAT one should read on its own (You don´t need me for that) .  But the result was interesting: RNFL (retinal nerve fiber layer) thinning could be found in little children similar to those you find in adults taking vigabatrin and having restrictions in the visual field.            A few questions crossed my mind when I read the abstract:       .) Can a study with much more patients con

The in-hospital emergency (and the Lipizzan)        It is early in the afternoon, when nurses at a surgical ward call for help: as the team that handles the in-hospital emergencies arrives, the patient is conscious again. The reason for the alert had been a dissociative disorder.      While browsing through the patients findings, an angiomyolipoma of the left kidney and epilepsy with focal starting and secondary generalising tonic-clonic seizures attract attention in between many other diagnosis.  The question of  a team member, wether tuberous sclerosis has been searched for, is denied. That means: one sees an animal with the looks of a horse, and it has black and white stripes on it. Everyone who got in contact with it so far, was thinking of a Lipizzan, that has been decorated with black stripes, and noone considered a Zebra. Lipizzan, right before some funny contemporary decorated it with black stripes    Some sentences about the prevalence

After diagnosis, patients and relatives fall in an abysmal hole, emotionally. Apart from emotional hardships, further difficulties occur because of this: often, information doctors provide is not perceived correctly.          On the other hand, it takes some time until one is ready to ask questions oneself:      1) because one is too shy to ask them, still (one gets rid of this awkwardness as time goes by) 2) because questions come up in ones head too late 3) because information one gets is not processed as far as one can pose questions out of it.   At this point hold true: take your time to get a grip on yourself emotionally, to some extend; get rid of your awkwardness and ask your questions. Noone has a grudge against you asking your questions until you gain understanding. Admit, on the other hand, that  the doctors don´t know an answer to your question immediately:   a) because one cannot predict the course of tuberous sclerosis in detail;   b)  becau

Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference      These are the most important articles concerning the       diagnosis    and     further treatment and follow-up examination         of tuberous sclerosis.      Both articles are, as the headline says already, recommendations of the "International Tuberous Sclerosis Complex Consensus Conference" .  All medical literature about tuberous sclerosis I´ve seen so far refer to those articles or carry them forward.

This video doesn´t mark the beginning or the end of the story, but THIS is certainly worth discussing.  But as a doctor, one has to take care that this doesn´t happen to oneself.              Considering the case of an obstetrician who has to pay for a child suffering from Down´s syndrom, simply because he told its mum about the possibility of prenatal diagnostics but didn´t mention decidedly the possibility of abortion in case of pathological findings, I don´t want to know what lawyers would make out of THIS.  

Who am I ? My name is Alois Wegerer and I´m an austrian anaesthesist and father of three kids, two of them suffer from tuberous sclerosis. T herefore I know both sides: that of a medical doctor and that of a concerned father.    I started with  blog in german - which is my mother tongue - to inform concerned parents about things we were not told when TSC was diagnosed in our daughter.  The austrian health system  supports a lot, but doctors and parents often don´t know where to get the right therapeuts for the special needs of the children. I can not offer you this information for your country. But what I can do (and will do) is publishing some case reports about tuberous sclerosis - things that happened to us or other patients. I don´t want to blame any doctor or hospital, I just want my fellow doctors to read them and think about what still happens but could´ve been avoided, so that such mistakes are not made any more.    Second, I want to encourage parents who have kids w

Things I want to achieve with this blog         1) I want to encourage parents of disabled children to do difficult seeming things like going on a holiday or going on a trip anywhere (becaus those things which are natural to others aren´t natural to us any more)   2) I want to sensitize others for the needs of disabled persons     3) I want to call attention to Tuberous Sclerosis, a rare disease wich is, in my experience, paid attention to too little.  Prevalence is estimated with 1 : 20 000, but frequency of occurence might be underestimated by colleagues. The estimated number of unrecorded cases is high. Hence, there´s still the risk of kids suffering from TSC, because of unknown disease of their mother or father - who transmitted TSC - with fatal consequences to the kid.     4) I want to point out possible sources of error by means of case reports to enable my fellow doctors to avoid them.    5)  I will try to translate what I´ve published in