PATAU SYNDROME -------------------------- Original Message -------------------------- 9th October 1995 RE:Patau's Syndrome (Trisomy 13) and recurrent skin infections. I have an 8 year old patient with Patau's Syndrome (Trisomy 13) who has a history of : 1) recurrent boils, spots, ulcers. two episodes of lancing needed in the last 6 months. 2) Apnoeic attacks increasing over last two years with 2 major respiratory arrests. His medication is : Dioctyl- for constipation Sytron- Fe+ Vitamin C-2500mg/day used due to uterine infections. Vallergan Forte-sedative Carbamazepine- epilepsy. Senna tablets-constipation Hydrocortisone cream -inflamed skin E45 Losec -reflux treatment. Can anyone out there suggest : a) A link between theses problems and trisomy 13? b) Any connection between the dermatological infections and the medication: To date no-one has suggested using Oxytetracycline, skin swabs have proved of little use in pointing to specific organisms to combat. He seems to be prone to some degree of pressure sores due to limited mobility I would appreciate any help / advice on treatment that could be suggested for this little boy. Peter Garwood Gloucestershire Royal Hospital Department of Ophthalmology e-mail 100347.2064@compuserve.com ============= From: Haines Ely I'd recommend a month or two of Cimetidine 400mg po HS. Often the T cell defect which allows recurrent infections is corrected by the cimetidine. If infections don't stop within the first two months discontinue therapy. =============== From: Meyer@msscc.med.utah.edu (Larry Meyer) Someone asked about the possible association of trisomy 13 with recurrent boils. There is a support organization for trisomies 13 and 18 (SOFT), in which there have been 13 children over 3 with trisomy 13. The eldest was 15. In addition, there have been 10 children with T13 over 3 in the literature. None has had this type of cutaneous infection. It seems most likely to me that this is a true association with T13, but that the number of patients at risk is too low to have observed it thus far. That seems more reasonable than the alternative that it is an unrelated problem. I would recomend aggresive therapy, assuming he may be a staph carrier (e.g rifampin, Septra (TMP/SM), topical mupiricin to perinium and nares). If that fails, suppresive therapy would be my next trial.