Assistant Editors Cristina Rusu Cristina Skrypnyk Vlad Gorduza. Secretary Vlad L. David

Transcription

1 Supplement 2/200

2 Editor in Chief Maria Puiu Department of Medical Genetics University of Medicine and Pharmacy Victor Babes Timisoara, Romania Tel/fax: Assistant Editors Cristina Rusu Cristina Skrypnyk Vlad Gorduza Secretary Vlad L. David Editorial Board Dorica Dan Adela Chirita-Emandi Amelia Dobrescu Mihai Gafencu Simona Farcas Diter Atasie Radu Popp Cristina Popa Corina Duncescu Honorary Members Ségolène Aymé, France Gheorghe Benga, România Anna & Giuseppe Baschirotto, Italy FRAMBU, Norway Romanian Journal of Rare Diseases ISSN Publisher: Victor Babes Printing House Address: P-ta Eftimie Murgu 2, Timisoara, Romania Tel./fax: 0256 / evb@umft.ro Scientific board Adrian C. Nicolescu, Kingston, Canada, Adrian Lupescu, Tuebingen, Germany Alex Almasan, Cleveland, Ohio, USA Alexander Rodewald, Germany Alice C. Ceacareanu, New York, USA Aurelia Szekely, Zalau, Romania Bogdan Iorga, Köln, Germany Calin Popoiu, Timisoara, Romania Cassian Sitaru, Freiburg, Germany Claudia Cosmineanu-Halaby, New York, USA Cristina Rusu, Iasi, Romania Cristina Skrypnyk, Oradea, Romania Curocichin Ghenadie, Chisinau, Moldavia Danalache Bogdan Alexandru, Montreal, Canada Dorin Bogdan Borza, Nashville, USA Dumitru Andrei Iacobas, New York, USA Dumitru Moldovan, Tg. Mures, Romania Emilia Severin, Bucuresti, Romania Eugen Boia, Timisoara, Romania Gabriela Anton, Bucuresti, Romania Gabriela Doros, Timisoara, Romania George-Lucian Moldovan, Boston, USA Gertrude-Emilia Costin, Maryland, USA Igor Cemortan, Chisinau, Moldavia Ioan Simedrea, Timisoara, Romania Ionel Sandovici, Cambridge, UK Katalin Csep, Tg. Mures, Romania Leonard Girnita, Stockholm, Suedia Marcel Ionita, Birmingham, USA Margit Serban, Timisoara, Romania Maria Puiu, Timisoara, Romania Marius Bembea, Oradea, Romania Mihai D. Niculescu, Chapel Hill, USA Minodora Dobreanu, Tg. Mures, Romania Mircea Covic, Iasi, Romania Mircea Ivan, Bloomington, USA Natalia Cucu, Bucuresti, Romania Peter Manu, New York, USA Sanda Marchian, Sibiu, Romania Sergiu P. Pasca California, USA Sorin Ursoniu, Timisoara, Romania Tamás Jánossy, Szeged, Hungary Tudor Oprea, New Mexico, USA Valerica Belengeanu, Timisoara, Romania Victor I. Pop, Cluj-Napoca, Romania Vlad Gorduza, Iasi, Romania Romanian Journal of Rare Diseases Supplement 2/200

3 ABOUT The Romanian Journal of Rare Diseases is an international journal addressing rare diseases and orphan drugs from the perspectives of basic and clinical genetics, molecular genetics, cytogenetics, epigenetics, population genetics, biotechnology, neurogenetics, cardiogenetics, oncogenetics, pharmacogenetics and related fields, by publishing original works, review articles, clinical reports and other contributions from all areas covered by The Romanian Journal of Rare Diseases. This publication is the international official journal of the National Committee for Rare Diseases, founded and started as part of the project of the Romanian Prader Willi Association, The Norwegian-Romanian Partnership (NoRo) for progress in Rare Diseases funded by the Norwegian Government granted by the Norwegian Cooperation Program for growth and sustainable development in Romania. The Romanian Prader Willi Association and the Victor Babes Publishing House, E. Murgu Square 2, 30004, Timisoara, tel./fax , publish the journal quarterly PURPOSE & AREA OF INTEREST For the journal are of interest articles from basic and clinical research. The journal publishes original articles, short reports, special communications, provided that they are based on adequate experimental evidence, clinical studies, case reports, images in rare diseases, letters to the editor, book reviews, reports of congresses and other articles that will be brought to Editorial Board s attention based on the public s for the journal. Editorials are published by invitation but we look forward to be offered such material from researchers with experience and results in the study of rare diseases. Requirements for publication in the Romanian Journal of Rare Diseases are in accordance with the requirements of Uniform Requirements for Manuscripts Submitted to Biomedical Journals 5th Edition. JAMA 997, 277: Romanian Journal of Rare Diseases Supplement 2/200 LEGAL DISCLAIMER The entire contents of the Romanian Journal of Rare Diseases are protected under international copyrights. The authors bare the entire responsibilities for the content of the article.

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5 Invitation ROMANIAN PRADER WILLI ASSOCIATION in partnership with INTERNATIONAL PRADER WILLI ORGANISATION NORWEGIAN PRADER WILLI ASSOCIATION FRAMBU RARE DISEASE CENTRE NORWAY Romanian Society of Medical Genetics and MEDICAL GENETICS Department of the University of Medicine and Pharmacy V. BABEŞ, TIMIŞOARA organise The Second Eastern-European Prader Willi Syndrome Conference October 29-30, 200 Zalău Coordinators Dorica Dan, Prof. Dr. Puiu Maria and Dr. Susanne Bliechfeldt The conference will be attended by national and international specialists, highly experienced in the field of rare disease management, in general, and Prader Willi Syndrome, in particular. Representatives of the Romanian Health Ministry, Embassy of Norway in Romania and local authorities will also attend. We are therefore inviting you to this event, which will be officially opened at Grand Hotel Severus on Friday, October 29th 200, at Thank you for your support and we are looking forward to seeing you, Dorica Dan APWR President Romanian Journal of Rare Diseases Supplement 2/200

6 The Second Eastern-European Prader Willi Syndrome Conference P R O G R A M Registration of participants Friday, 29 October Official opening of congress Welcome speech and introduction (APWR, IPWSO, EURORDIS, Health Ministry, Innovation Norway, partners and local authorities) Chair Dorica Dan NEWS IN PWS Moderators: Christel Norissier, France, EURORDIS EUCERD Dorica Dan, APWR Communication Communication Communication The 7 th Scientific conference of the International PWS Organisation Antony Holland, Cambridge, UK News about Prader-Willi Syndrome. Clinical research presented at the IPWSO Conference in Taiwan 200 Susanne Blichfeldt. MD. Paediatric department. Glostrup University Hospital Glostrup. Denmark Results of the Caregiver s Conference in Tapei Hubert Soyer, Germania.0.5 Discussions Q & A Coffee break Communication Communication Report The Romanian Prader Willi Association Prader Willi Syndrome a model for approaching rare diseases in Romania Dorica Dan president RPWA Presentation of the Project Norwegian Romanian (NoRo) Partnership for Progress in Rare Diseases Lázár Zsuzsa, RPWA, Zalau General health in Prader-Willi syndrome Susanne Blichfeldt MD. Department of Paediatrics. Glostrup University Hospital Glostrup, Denmark Discussions Q & A Lunch break Romanian Journal of Rare Diseases Supplement 2/200

7 Specific issues in PWS (part I) Moderators: Susanne Blichfeldt (Denmark), Maria Puiu (Timisoara, Romania) Communication Communication Communication Communication Communication Romania: Research in PWS Together with and for Patients Maria Puiu, Mihai Gafencu, Dorica Dan 2, Margit Serban, University of Medicine and Pharmacy, Timisoara, Romania, 2 APWR, Zalau Epigenetic mechanisms underlying the imprinting defects: implications for the establishment of diagnostic testing schemes for Prader Willi syndrome in Romanian population. Natalia Cucu, Gabriela Anton 2, Maria Puiu 3, Cosmin Arsene, Anca Botezatu 2, Corin Badiu 4, Vasilica Plaiasu 5, Daniela Nedelcu 5, Radu Stefanescu 5 University of Bucharest, Faculty of Biology, Dept of Genetics, Epigenetics Laboratory 2 Stefan Nicolau Institute of Virology, Dept of Molecular Biology, Bucharest 3 Medical and Pharmaceutical University Timisoara 4 N Parhon Institute of Endocrinology, Bucharest 5 Genexplore, Bucharest The cytogenetic investigation before and after birth, Gorduza E.V. University of Medicine and Pharmacy Gr. T. Popa Iaşi, Department of Medical Genetics Endocrine obesity in Prader Willi syndrome Corin Badiu, Gabi Madaras National Institute of Endocrinology, Bucharest, Romania Neurological aspects in PWS, Violeta Stan University of Medicine and Pharmacy V Babes, Timisoara Discussions Coffee break Specific issues in PWS (part II) Moderators: Arnesen Ragnhild (PWA Norway), Vlad Gorduza (Iasi, Romania) Communication Communication Communication Obesity and diabetes in Prader Willi Syndrome (PWS) Aurelia Szekely, Zsuzsa Lázár, Zalau Prader-Willi Syndrome rare facts cardiac, renal and poisoning complications Gafencu Mihai, Gabriela Doros, Maria Puiu University of Medicine and Pharmacy V Babes, Timisoara Reduced deep sleep efficiency without excessive daytime somnolence in advanced and severe concomitant obstructive sleep apnea - hypopnea and Prader Willi syndrome Stefan Frent, Stefan Mihaicuta, UMF V. Babes Timisoara Romanian Journal of Rare Diseases Supplement 2/200

8 Communication Communication Recommendations for the Diagnosis and Management of Prader-Willi Syndrome. Effects of growth hormone therapy in children, Dana David, Raluca Dumache, UMF V. Babes Timisoara Orthopedic and Surgical Features in Patients with Prader Willi Syndrome Popoiu MC, David VL2, Boia ES, Maria Puiu University of Medicine and Pharmacy Victor Babes Timisoara 2 Emergency Children s Hospital Louis Turcanu Timisoara Discussions IPWSO achievements and perspectives; Giorgio Fornasier CEO IPWSO; Dinner Saturday, 30 Octombrie, Interdisciplinary approaches in PWS. Moderators: Giorgio Fornasier, Antony Holland, Kaja Giltvedt Report Report Report Communication Communication The impact of the National plans on the life of people living with Prader-Willi syndrome in France Christel Nourisier, Franta, BoD EURORDIS, EU CERD member Psychiatric aspects in PWS, Antony Holland, Cambridge, Great Britain Ethical management of patients with Prader-Willi syndrome across life span Violeta Olivia Stan, University of Medicine and Pharmacy V Babes, Timisoara Particular forms of Prader Willi syndrome clinical and genetic study, C. Rusu, C. Vulpoi, E. Braha, M. Volosciuc, I. Ivanov, C. Gorduza, V. Gorduza, M. Puiu, D. Dan, UMF Iasi Nutrition management in Prader Willi syndrome, Adela Chirita, University of Medicine and Pharmacy Victor Babes Timisoara Coffee break. Poster session Communication Discussions Prader-Willi syndrome and physiotherapy Giltvedt, Kaja, Lisen Mohr, Frambu Resource Centre for Rare Disorders, Oslo Norway Changes throughout life. Moderators: Anna and Giuseppe Baschirotto, BIRD Italia Ioana Rotaru ACASA Foundation, Romania Communication Communication Transition to adulthood: What is a good life for persons with PWS? Ragnhild Arnesen, Norway Prader Willi Assocoiation Understanding and managing educational issues in Prader- Willi syndrome, Amalia Raluca Sabău, The Romanian Prader Willli Association Romanian Journal of Rare Diseases Supplement 2/200

9 Communication Communication Communication Discussions Behavioral interventions in PWS Simona Dumitriu, University of Medicine and Pharmacy V Babes, Timisoara Art therapy activities for PWS children and teenagers Mihaiela Fazecas, Emese Darko, APWR Nursing aspects for PWS patients Livia Berinde, Claudia Goron Rehabilitation, Treatment and Care Center ACASA Zalau, Romania Lunch Best practice examples in approaching PWS patients Moderators: Lisen Julie Mohr, Frambu, Norvegia Conf. Dr. Crisina Rusu, UMF Iasi Communication Communication Communication Personal experience in PWS Giorgio Fornasier, Italy Disease specific rehabilitation in Prader-Willi syndrome, Emanuele Grolla, Gilberto Andrighetto, Pietro Parmigiani, Uros Hladnik, Gabriela Ferrari, Roberta Bernardelle, Martina Dal Lago, Anna Albarello, Giuseppe Baschirotto, Giuseppe Filippi 2, Roberto Lovato 3, Diego Dolcetta M. Baschirotto Institute for Rare Diseases - B.I.R.D., Centro Diagnostico Riabilitativo per la Diagnosi Terapia e Cura delle Malattie Rare, Costozza di Longare-Vicenza, Italy 2 Camillo de Lellis Hospital, Department of Rehabilitation Alto Vicentino, ULSS4-Schio, Italy; 3 Villa Berica Hospital, Vicenza, Italy NORO - ONE STEP TOWARDS A SUCCESSFULL REHABILITATION Ioana Rotaru, Rehabilitation, Treatment and Care Center ACASA Zalau, Romania Communication Communication Discutii Coffee break Conclusions. Closure of conference. The project The National Center for employment opportunities for people with multiple sclerosis and other neurological rare diseases - Ability Access, Claudia Torje manager de proiect, Romanian Multiple Sclerosis Society Rare Disease Communities Robert Pleticha, Online Patient Communities Coordinator, Eurordis Volunteers for rare diseases- 3 years, Iulia Jurca-Simina, Florin Jurca-Simina, Ionela Moaca, Pop Norbert, Berci Stefan, Iulia Popa, Mihai Gafencu, Maria Puiu - volunteers in Save the Children organization, Timis office Norway (FRAMBU), Italy (BIRD), Romania, Denmark, France, Germany Romanian Journal of Rare Diseases Supplement 2/200

10 Postere CHANGING PHENOTYPES IN PRADER WILLI SYNDROME Adela Chirita Emnadi University of Medicine and Pharmacy V Babes, Timisoara THE GROWING PATTERN IN A PATIENT WITH PRADER-WILLI SYNDROME AFTER GH THERAPY Gorduza N.C., Braha E.E. 2, Gorduza E.V. St. Spiridon Hospital Iaşi, Clinic of Endocrinology, 2 Uiversity of Medicine and Pharmacy Gr. T. Popa Iaşi, Department of Medical Genetics vgord@mail.com NEWBORN WITH HYPOTONIA AND DISTURBANCES OF ENDOCRINE-METABOLIC FUNCTIONS DIAGNOSES WITH PRADER-WILLY SYNDROME Monica Stoian¹, Maria Puiu¹, Simona Farcas¹, Nicoleta Andreescu¹, Marioara Boia², Valerica Belengeanu¹ ¹ Department of Medical Genetics, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania ² Department of Neonatology, Louis Turcanu Children Hospital, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania monistoian@yahoo.com PERSPECTIVE DATA FOR CEPHALOMETRIC ANALYSIS AND ORODENTAL PATTERN FOR ROMANIAN PRADER-WILLI SYNDROME PATIENTS Dragos Belengeanu¹, Angela Podariu², Monica Stoian³, Maria Puiu³, Dorica Dan 4 ¹ College of Dental Technique, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania ² Department of Medical Dental Prevention and Oral Health, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania ³ Department of Medical Genetics, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania 4 Romanian Prader-Willi Syndrome Association dragos.bele@yahoo.com DIGESTIVE DISORDERS IN PRADER WILLI SYNDROME Maria Pop, Maria Puiu, University of Medicine and Pharmacy V. Babes, Timisoara EMOTIONAL AND BEHAVIOURAL PROBLEMS IN PRADER WILLI SYNDROME Catana Andreea, Dronca Eleonora, Serban Simona, Miclea Diana, Pop Ionut, Felicia Petrisor, Pop I. Victor University of Medicine and Pharmacy, Cluj-Napoca, Romania THE IMPACT OF THE DIAGNOSIS AND DISABILITY ON THE FAMILY AND PERSON WITH PRADER-WILLI SYNDROME Dronca Eleonora, Catana Andreea, Serban Simona, Miclea Diana, Pop Ionut, Pop I Victor University of Medicine and Pharmacy, Cluj-Napoca, Romania HEALTH ISSUES AND CONCERNS IN PRADER WILLI SYNDROME Serban Simona, Catana Andreea, Dronca Eleonora, Miclea Diana, Pop Ionut, Pop I Victor University of Medicine and Pharmacy, Cluj-Napoca, Romania 0 Romanian Journal of Rare Diseases Supplement 2/200

11 A FEW WAYS TO MANAGE BEHAVIORAL DISTURBANCES IN PRADER WILLI SYNDROME Mariana Cojocaru PhD Student, Carol Davila Univ Med Pharm, Bucharest Romania c-flip REGULATION OF ENDOTHELIAL CELLS APOPTOSIS IN THROMBOTIC THROMBOCYTOPENIC PURPURA (TTP) LIKE CONDITIONS Jeffrey Laurence, and Radu Stefanescu 2, 3 Department of Medicine, Division of Hematology-Oncology, Weill Medical College Cornell University, New York, NY; 2 Titu Maiorescu School of Medicine, Bucharest, Romania; and 3 GeneXplore, Romania LOBAR HOLOPROSENCEPHALY-A RARE DISEASE Marioara Boia, E.S. Boia*, Maria Puiu**, Dana Iacob*, Aniko Manea* University of Medicine and Pharmacy Victor Babes, Timisoara, Romania Keywords: holoprosencenphaly, echography, newborn EFFECTIVE REHABILITATION TREATMENT IN A CASE WITH DOUBLE CHROMOSOMAL DELETION Dorina STOICANESCU, Mariana CEVEI 2 University of Medicine and Pharmacy Victor Babes, Department of Medical Genetics, Timisoara, Romania 2 University of Oradea, Faculty of Medicine and Pharmacy, Medical Rehabilitation Clinical Hospital Felix Spa, Oradea, Romania ORAL MANIFESTATIONS INCLUDING GINGIVAL FIBROMATOSIS IN RARE DISEASES Talpoş Ş, Puiu M, Talpoş C, Popa M University of Medicine and Pharmacy Victor Babeş Timişoara, Romania Faculty of Dental Medicine Department of Oral and Maxillo-Facial Surgery Department of Medical Genetics CLINICA AND BIOLOGICAL CONFIRMATIONIN AN SUSPICION OF GLUT DEFICIENCY SYNDROME Dumitriu Simona, University of Medicine and Pharmacy Victor Babeş Timişoara, Romania FROM A PARTICULAR PHENOTYPE TO A RARE GENETIC DISEASE A PEDIATRIC APPROACH T.Marcovici,2, I.Simedrea,2, G.Brad 2, L.Olariu,2, M.Puiu,2 Victor Babes University of Medicine and Pharmacy, Timisoara, Romania 2 Louis Turcanu Children s Emergency Hospital, Timisoara, Romania t_marcovici@yahoo.com GENETIC COUNSELORS AND PREDICTIVE MEDICINE: A NEEDED PROFESSION IN ROMANIA Maria Puiu, Adela Chiriţă, Dorica Dan 2 Victor Babes University of Medicine and Pharmacy, Timisoara, Romania 2 Romanian Prader Willli Association ASESSMENT OF MULTIPLE MALFORMATION IN NEWBORN. CASE REPORT. Belei Oana, Giurescu Ramona, Micle Ioana,Pop Elena, Marazan Monica, Simedrea Ioan, Puiu Maria First Pediatric Clinic, UMF Victor Babes Timisoara A RARE CASE OF HEPATOMEGALY Maria Pop,2, I. Plesea 2, B. Farcasescu 2, M. Serban,2 Victor Babes University of Medicine and Pharmacy Timisoara 2 Louis Turcanu Emergency Children Hospital IIIrd Pediatric Clinic Romanian Journal of Rare Diseases Supplement 2/200

12 A NEW CASE 46,XX MALE SYNDROME Cristina Gug,2 Genetics Department, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania 2 Cabinet Medical de Genetica Dr. Cristina Gug, Timisoara, Romania RARE CAUSE OF HEMOPHAGOCYTIC DISORDER - CHEDIAK-HIGASHI SYNDROME-CASE REPORT E. Boeriu,2, M. Cucuruz,2, M. Lelik,2, G. Brad,2, I. Ursache,2, A. Botiz, M.Puiu, M. Serban,2 Children s Emergency Hospital Louis Turcanu, Timisoara 2 3rd Pediatric Clinics, Hemato-Oncology Department, University of Medicine and Pharmacy V. Babes Timisoara PALLIATIVE MEDICINE IN RARE DISEASES - INTERFERENCE AND CHALLENGES E. Boeriu,2, M. Cucuruz,2, S. Arghirescu,2, R. Costea, G. Brad, I. Ursache, M. Serban,2 Children s Emergency Hospital Louis Turcanu, Timisoara 2 III Pediatric Clinic, Department of Hematology-Oncology University of Medicine and Pharmacy Victor Babes Timisoara PRIMARY IMMUNODEFICIENCIES - CURRENT DIAGNOSIS AND MANAGEMENT Maria Cucuruz, Estera Boeriu, Mihaela Bătăneanţ, Giorgiana Brad, Maria Puiu 2 III Pediatric Clinic, University of Medicine and Pharmacy Victor Babes Timisoara; 2 Discipline of Genetics University of Medicine and Pharmacy Victor Babes Timisoara THE NEONATAL SCREENING FOR CONGENITAL HYPOTHYROIDISM IN TIMIS AREA 0 YEARES OF EXPERIENCE Otilia Marginean, Ioan Simedrea, Ioana Micle, Marilena Lesovici,Olaru Gabriela 2, Ilie Constantin 3, Maria Puiu, Roxana Gruescu, Elena Jivet, Tira Maria,. Clinical Children Hospital Louis Turcanu Timisoara 2. Marin ppopescu Maternity of Timisoara 3 Bega Maternity of Timisoara 2 Romanian Journal of Rare Diseases Supplement 2/200

13 Table of contents REPORTS (FOLLOWING CONGRES PROGRAM). Psychiatric aspects in PWS News about Prader-Willi Syndrome. Clinical research presented at the IPWSO conference in Taiwan Susanne Blichfeldt 3. Results of the Caregiver s Conference in Tapei... 7 Hubert Soyer, Germania 4. The Romanian Prader Willi Association Prader Willi Syndrome a model for approaching rare diseases in Romania... 7 Dorica Dan president RPWA 5. Presentation of the Project Norwegian Romanian (NoRo) Partnership for Progress in Rare Diseases... 8 Lázár Zsuzsa, RPWA, Zalau 6. GENERAL HEALTH IN PRADER-WILLI SYNDROME... 9 Susanne Blichfeldt MD 7. Romania: research in rare diseases totghether and for patients... 9 Maria Puiu, Mihai Gafencu, Natalia Cucu, Dorica Dan, Margit Serban 8. Epigenetic mechanisms underlying the imprinting defects: implications for the establishment of diagnostic testing schemes for Prader Willi syndrome in Romanian population Natalia Cucu, Gabriela Anton, Maria Puiu, Cosmin Arsene, Anca Botezatu, Corin Badiu, Vasilica Plaiasu, Daniela Nedelcu, Radu Stefanescu 9. The cytogenetic investigation before and after birth... 2 Gorduza E.V. 0. Endocrine obesity in Prader Willi Syndrome... 2 Corin Badiu, Gabi Madaras. Neurological aspects in PWS Violeta Stan, Emergency Children s Hospital Louis Turcanu Timisoara 2. Obesity and diabetes in Prader Willi Syndrome (PWS) Aurelia Szekely, Zsuzsa Lázár 3. Prader-Willi Syndrome rare facts cardiac, renal and poisoning complications Gafencu Mihai, Gabriela Doros, Maria Puiu 4. Reduced deep sleep efficiency without excessive daytime somnolence in advanced and severe concomitant obstructive sleep apnea - hypopnea and Prader Willi Syndrome Stefan Frent, Stefan Mihaicuta 5. Recommendations for the Diagnosis and Management of Prader-Willi Syndrome. Effects of growth hormone therapy in children Dana Liana David, Raluca Dumache 6. Orthopedic and Surgical Features in Patients with Prader Willi Syndrome Popoiu MC, David VL, Boia ES, Maria Puiu 7. The impact of the National plans on the life of people living with Prader-Willi syndrome in France Christel Nourisier, Franta, BoD EURORDIS 8. Psichiatric aspects in PWS Antony Holland, Cambridge, UK 9. Ethical management of patients with Prader-Willi syndrome across life span Violeta Olivia Stan 20. Particular forms of Prader Willi syndrome clinical and genetic study C. Rusu, C. Vulpoi, E. Braha, M. Volosciuc, I. Ivanov, C. Gorduza, V. Gorduza, M. Puiu, D. Dan Romanian Journal of Rare Diseases Supplement 2/200 3

14 2. Nutrition management in Prader Willi syndrome Adela Chirita 22. PRADER-WILLI SYNDROME AND PHYSIOTHERAPY Giltvedt, Kaja and Lisen Mohr 23. TRANSITION TO ADULTHOOD: WHAT IS A GOOD LIFE FOR PERSONS WITH PWS? Arnesen, R.O. 24. Understanding and managing educational issues in Prader-Willi Syndrome Amalia Raluca Sabău 25. Behavioral interventions in PWS Simona Dumitriu 26. Art Therapy Activities for Children and Adolescents with Prader Willi Syndrome... 3 Mihaiela Fazecas, Emese Darko 27. Nursing aspects for PWS patients... 3 Livia Berinde, Claudia Goron 28. Disease specific rehabilitation in Prader-Willi Syndrome Emanuele Grolla, Gilberto Andrighetto, Pietro Parmigiani, Uros Hladnik, Gabriela Ferrari, Roberta Bernardelle, Martina Dal Lago, Anna Albarello, Giuseppe Baschirotto, Giuseppe Filippi, Roberto Lovato, Diego Dolcetta 29. NORO - ONE STEP TOWARDS A SUCCESSFULL REHABILITATION Ioana Rotaru 30. The National Center for employment opportunities for people with multiple sclerosis and other neurological rare diseases - Ability Access Claudia Torje 3. Rare Disease Communities Robert Pleticha 32. Volunteers for rare diseases- 3 years Iulia Jurca-Simina, Florin Jurca-Simina, Ionela Moaca, Pop Norbert, Berci Stefan, Iulia Popa Mihai Gafencu, Maria Puiu POSTERS CHANGING PHENOTYPES IN PRADER WILLI SYNDROME Adela Chirita Emnadi THE GROWING PATTERN IN A PATIENT WITH PRADER-WILLI SYNDROME AFTER GH THERAPY Gorduza N.C., Braha E.E., Gorduza E.V. NEWBORN WITH HYPOTONIA AND DISTURBANCES OF ENDOCRINE-METABOLIC FUNCTIONS DIAGNOSES WITH PRADER-WILLY SYNDROME Monica Stoian, Maria Puiu, Simona Farcas, Nicoleta Andreescu, Marioara Boia, Valerica Belengeanu PERSPECTIVE DATA FOR CEPHALOMETRIC ANALYSIS AND ORODENTAL PATTERN FOR ROMANIAN PRADER-WILLI SYNDROME PATIENTS Dragos Belengeanu, Angela Podariu, Monica Stoian, Maria Puiu, Dorica Dan DIGESTIVE DISORDERS IN PRADER WILLI SYNDROME Maria Pop, Maria Puiu EMOTIONAL AND BEHAVIOURAL PROBLEMS IN PRADER WILLI SYNDROME Catana Andreea, Dronca Eleonora, Serban Simona, Miclea Diana, Pop Ionut, Felicia Petrisor, Pop I. Victor THE IMPACT OF THE DIAGNOSIS AND DISABILITY ON THE FAMILY AND PERSON WITH PRADER-WILLI SYNDROME Dronca Eleonora, Catana Andreea, Serban Simona, Miclea Diana, Pop Ionut, Pop I Victor HEALTH ISSUES AND CONCERNS IN PRADER WILLI SYNDROME Serban Simona, Catana Andreea, Dronca Eleonora, Miclea Diana, Pop Ionut, Pop I Victor 4 Romanian Journal of Rare Diseases Supplement 2/200

15 A FEW WAYS TO MANAGE BEHAVIORAL DISTURBANCES IN PRADER WILLI SYNDROME Mariana Cojocaru c-flip REGULATION OF ENDOTHELIAL CELLS APOPTOSIS IN THROMBOTIC THROMBOCYTOPENIC PURPURA (TTP) LIKE CONDITIONS Jeffrey Laurence, Radu Stefanescu LOBAR HOLOPROSENCEPHALY-A RARE DISEASE Marioara Boia, E.S. Boia, Maria Puiu, Dana Iacob, Aniko Manea EFFECTIVE REHABILITATION TREATMENT IN A CASE WITH DOUBLE CHROMOSOMAL DELETION Dorina STOICANESCU, Mariana CEVEI ORAL MANIFESTATIONS INCLUDING GINGIVAL FIBROMATOSIS IN RARE DISEASES... 4 Talpoş Ş, Puiu M, Talpoş C, Popa M CLINICA AND BIOLOGICAL CONFIRMATIONIN AN SUSPICION OF GLUT DEFICIENCY SYNDROME... 4 Dumitriu Simona FROM A PARTICULAR PHENOTYPE TO A RARE GENETIC DISEASE A PEDIATRIC APPROACH T.Marcovici, I.Simedrea, G.Brad, L.Olariu, M.Puiu GENETIC COUNSELORS AND PREDICTIVE MEDICINE: A NEEDED PROFESSION IN ROMANIA Maria Puiu, Adela Chiriţă, Dorica Dan ASESSMENT OF MULTIPLE MALFORMATION IN NEWBORN. CASE REPORT Belei Oana, Giurescu Ramona, Micle Ioana, Pop Elena, Marazan Monica, Simedrea Ioan, Puiu Maria A RARE CASE OF HEPATOMEGALY Maria Pop, I. Plesea, B. Farcasescu, M. Serban A NEW CASE 46,XX MALE SYNDROME Cristina Gug RARE CAUSE OF HEMOPHAGOCYTIC DISORDER - CHEDIAK-HIGASHI SYNDROME- CASE REPORT E. Boeriu, M. Cucuruz, M. Lelik, G. Brad, I. Ursache, A. Botiz, M.Puiu, M. Serban PALLIATIVE MEDICINE IN RARE DISEASES - INTERFERENCE AND CHALLENGES E. Boeriu, M. Cucuruz, S. Arghirescu, R. Costea, G. Brad, I. Ursache, M. Serban PRIMARY IMMUNODEFICIENCIES - CURRENT DIAGNOSIS AND MANAGEMENT Maria Cucuruz, Estera Boeriu, Mihaela Bătăneanţ, Giorgiana Brad, Maria Puiu THE NEONATAL SCREENING FOR CONGENITAL HYPOTHYROIDISM IN TIMIS AREA 0 YEARES OF EXPERIENCE Otilia Marginean, Ioan Simedrea, Ioana Micle, Marilena Lesovici, Olaru Gabriela Ilie Constantin, Maria Puiu, Roxana Gruescu, Elena Jivet, Tira Maria Romanian Journal of Rare Diseases Supplement 2/200 5

16 Reports (Following Congress Program). Psychiatric aspects in PWS Antony Holland, UK PWS is associated with a specific risk for particular behaviour problems and for the development of psychiatric illness. These problems include; a) the development of severe over-eating behaviour starting in early childhood and persisting throughout life; b) a marked tendency to ritualistic and repetitive behaviours and to temper outbursts; c) self-injurious behaviour in the form of skin picking; and d) the development of affective disorders including depression and bipolar disorders and psychotic illness. The reasons for this and the implications for support and intervention will be reviewed. Key to intervention is a detailed assessment of the individual and their circumstances. Communication The 7 th Scientific conference of the International PWS Organisation took place in Taiwan in May 200. New findings present at the conference included the following: a) investigations of the reasons for temper outbursts and how they may be linked to difficulties people with PWS have shifting their attention from one task to another; b) observations about changes that may occur in the functioning of people with PWS in later life; c) family and relationship issues; d) the relationship between PWS and autism spectrum conditions; d) research on the eating behaviour including the ability of people with PWS to fast as part of religious observance, the relationship between eating behaviour and circulating peptides, and two studies looking at the treatment of the over-eating behaviour - the use of exenatide and of vagus nerve stimulation; e) the use of databases to support PWS research and to overcome the limitations of research because PWS is a rare disorder; and f) an overview of the genetics of PWS. These will be briefly discussed in the presentation. 2. News about Prader-Willi Syndrome. Clinical research presented at the IPWSO conference in Taiwan 200 Susanne Blichfeldt MD. Paediatric department. Glostrup University Hospital, 2600 Glostrup. Denmark s.blichfeldt@dadlnet.dk Oral and poster presentations are referred: Clinical research concerning symptoms in neonates, appetite and weight in infancy and childhood will be described. Concerning endocrinology in PWS are referred that both children and adults benefit from growth hormone treatment. 6 Romanian Journal of Rare Diseases Supplement 2/200

17 Testosterone treatment in adult males improves lean body mass and self esteem and is not followed by behavioral problems. Thyroid function can be low. Adrenal insufficiency seems to be rare. Reflux is seen and dental problems are not rare. Body mass index can not be used for evaluation of percentage of body fat Overweight and metabolic syndrome is common in adults. The role of ghrelin is discussed. Constipation and incontinence is common. Orthopedic symptoms beside scolioses are flat-foot, hip and other joint problems. Topics for actual clinical research are presented. 3. Results of the Caregiver s Conference in Tapei Hubert Soyer, Germania In retrospect of the Caregiver s Conferences history, the main aspects of the conference in Taipei are highlighted. Examples of living, work and therapy show experiences in practice with people with PWS in different countries. In addition the presentation gives a rough overview of the Best Practice Guidelines for Standard of Care in PWS, developed in the previous conferences in Herne 2008 and The Romanian Prader Willi Association Prader Willi Syndrome a model for approaching rare diseases in Romania Dorica Dan president RPWA AIM: To assess the results of 7 years of activity of RPWA in Romania in order to ensure an increased quality of life for patients with rare diseases, using the comprehensive approach in the management of one of these diseases: PWS. ROMANIAN PRADER WILLI ASSOCIATION represents patients with Prader Willi Syndrome and other rare diseases in Romania, as well as their families and we wish to fight against the ongoing isolation that the health system, mass media, and scientific researchers in our country foster. The Romanian Prader Willi Association RPWA was created in May 2003, in order to bring together the efforts of patients, specialists and families to ensure a better life for all people with disabilities produced by rare diseases in Romania. On October we opened the Information Center for Rare Genetic Diseases. It is the first center of this type in Romania and we wish it to be a resource center for patients with rare diseases, their families and specialists involved in the diagnosis and management of these diseases. The access to information about diagnosis and management is essential and support groups of patients who went through similar experiences may lead to a better acceptance of the situation and a more efficient approach of the disease. We are aware of the fact that, no matter how strong and motivated parents may be, they cannot succeed by themselves to fight the disease. They need specialists and the understanding of the community they are part of. The most important objective of our association is to provide support and understanding, counseling and access to information, so that nobody feels alone anymore. Through different projects, RPWA became more professional in providing socio-medical and educational services for PWS and rare diseases. We are accredited for our services, provide authorized training courses and we are accredited for research capacity and for continuous medical education. Through implementation of the project Norwegiano Romanian (NoRo) Partnership for progress in rare diseases funded by the Norwegian Cooperation Program with Bulgaria and Romania we are developing the services and create new services for patients with rare diseases in Romania. Romanian Journal of Rare Diseases Supplement 2/200 7

18 Starting from the model of PWS where weight management and behavior intervention therapies are essential, we have realized that these therapies and interventions would be efficient for many rare diseases with motor retardation, obesity, hypotonia associated with cognitive impairments. In our project, we began with the idea that health and quality of life can be improved for a wide range of rare diseases if we address behavioral problems and start effective weight management programs (a large part of rare diseases lead to neuro motor deficiencies and are aggravated by obesity and behavioral problems). Many genetic syndromes are associated with deficient disorders including autistic type behaviors. Autism or autistic psycho-behavioral type behaviors occur in many genetic diseases (Angelman Syndrome, Charge Syndrome, Cohen Syndrome, Hartnup syndrome, Moebius syndrome, Prader Willi syndrome, Toluene syndrome, Tuberous Sclerosis, Williams Syndrome and a number of structural chromosomal abnormalities). For all these patients there are not services at all in Romania. Conclusion: We strive for and our projects include: timely diagnosis and correct application of therapeutic and educational programs to alleviate specific manifestations of rare diseases to improve genetic affection status of the growth opportunities and psychosocial integration of these patients. 5. Presentation of the Project Norwegian Romanian (NoRo) Partnership for Progress in Rare Diseases Lázár Zsuzsa, RPWA, Zalau The main goal of the Romanian Prader Willi Association is to increase the quality of life for people affected by Prader Willi Syndrome and other rare diseases. From the beginning through its activity the association was working to unite the efforts of patients, specialists and families to work together for this goal. The complexity of the objectives and activities of the NoRo project mostly funded by a grant from Norway through the Norwegian Co-operation Programme for Economic Growth and Sustainable Development in Romania offers a real possibility to make important steps in the field of rare diseases in Romania. Having as partners the Norwegian PWS Association, FRAMBU Norwegian Center for Rare Diseases, Ministry of Health Romania, Foundation ACASA, St. Family Church Zalau, City Hall Zalau/ DASC, County Council Salaj/ DGASPC, Romanian Medical Genetics Society, Medical University Timisoara, Romanian National Alliance for Rare Diseases, we are working for the goal of the project. In the project we created the National Committee for Rare Diseases which includes representatives of specialists (doctors, psychologists, social workers, special educators), patient organizations and of the partners in the project. This group evaluated the existing situation in rare diseases from Romania and proposed measures to improve quality of life for patients affected by these diseases. The main document developed is the National Plan for Rare Diseases, which was forwarded to the Ministry of Health in order to be adopted and introduced in the National Strategy for Health. We are also creating new services in rare diseases by the Pilot Reference Center for Rare Diseases. It will provide services in three main components. A day center for children with rare diseases with behaviors on the autistic spectrum with behavioral therapy and weight management unit. A comprehensive training program for patients, families, caretakers and specialists involved in the management of rare diseases, using the Frambu model. Groups of people with the same or similar diseases will come to participate on five days training programs offered by specialists in topics related to their diseases. Most of these groups will be able to participate on the three week rehabilitation program at Acasa Foundation before or after their training period. 8 Romanian Journal of Rare Diseases Supplement 2/200

19 The third component will be dedicated to patients newly diagnosed and their families to learn to cope with new situations more easily by receiving counseling and information about the disease and existing services in the country and abroad for their diagnosis. In rare diseases information and training are essential in order to provide quality services in diagnoses, treatment and rehabilitation of the patients. We created authorized training courses for specialists who work with patients with rare diseases, and we are developing a euniverity in order to have more accessible information. For many rare diseases there are no effective treatments, but a good management of the disease, using adequate services can provide a better quality of life for people affected by rare diseases. 6. GENERAL HEALTH IN PRADER-WILLI SYNDROME Susanne Blichfeldt MD Department of Paediatrics. Glostrup University Hospital Glostrup, Denmark Obesity because of hyperphagia is the greatest health risk in Prader-Willi Syndrome(PWS). Other symptoms of PWS are important to be aware of to avoid serious disease situations and death in young age. Severe infections without fever, and minimal complaints of pain because of fractures or intraabdominal diseases, are typical situations in PWS, leading to delay of diagnoses and treatment. Other medical conditions, not related to weight, can be poor vision, dental problems, intestinal problems incl. constipation, scoliosis, kyphoses, hypogonadism, osteoporoses, skin picking, abnormal sleep pattern and psychiatric diseases. Weight related problems can be heart and lung diseases with hypoventilation and sleepiness, incontinence, edema, skin ulcers, joint problems, diabetes, side effects of medication and reduced motor function. 7. Romania: research in rare diseases totghether and for patients Maria Puiu, Mihai Gafencu, Natalia Cucu, Dorica Dan, Margit Serban University of Medicine and Pharmacy V. Babes, Timisoara, RPWA, Zalau In recent years, rare diseases have become a priority and a major concern of the European Parliament. It became increasingly obvious that these patients need support from European community. All the national single efforts in this field are not sufficient and those diseases are so rare, there we need centers and experts in each European Member State. In Romania, the growing interest of the govermental health system is due to the rare disease patients associations effort in the last 5 years (APWR then ANBRaRo). But their efforts have to be completed by medicals community. In this context, a group of Romanian professionals have initiated the research project Corelation of clinic, genetic and epigenetic aspects implicated in the etiology of Prader Willi/Angelman syndroms: model of multidisciplinary abordation for rare diseaseas in Romania. The project is remarcable because of the development of an efficient cooperation and partnership among important institutions for medical education, universities, research institution and patient organisation (RPWA) in order to solve some problems related to diagnostic, complex treatment and prevention in RD. The new interdisciplinary and pluridisciplinary approach of RD research in Romanian will enssure a better connection with European research projects and will contribute to optimization of the investigation methods, to a more efficient public health care sistem, with a major economic and social impact through shortening the period for a proper genetic diagnose, hospitalisation, reducing the costs and increasing their chances for integration into community. Romanian Journal of Rare Diseases Supplement 2/200 9

20 Through this project will be established a CDI network wih expertise in RD, at EU standards, improving the capacity for education and research. Coordination of such complex teams of researchers will facilitate the initiation of new cooperation in international research projects in RD. Our project promotes a new model of partnersip among researchers and patients and will prove at national level the efficiency of network approach in RD and cooperation for both, patient interest and research. 8. Epigenetic mechanisms underlying the imprinting defects: implications for the establishment of diagnostic testing schemes for Prader Willi syndrome in Romanian population Natalia Cucu, Gabriela Anton 2, Maria Puiu 3, Cosmin Arsene, Anca Botezatu 2, Corin Badiu 4, Vasilica Plaiasu 5, Daniela Nedelcu 5, Radu Stefanescu 5 University of Bucharest, Faculty of Biology, Dept of Genetics, Epigenetics Laboratory 2 Stefan Nicolau Institute of Virology, Dept of Molecular Biology, Bucharest 3 Medical and Pharmaceutical University Timisoara 4 N Parhon Institute of Endocrinology, Bucharest 5 Genexplore, Bucharest Clinical diagnosis of the Prader-Willi and Angelman syndromes remain difficult in many instances because of the individual variations in the phenotype and because the phenotype develops only with age. Knowledge of the basic genetic defect and its possible inheritance, but also the recently discovered epigenetic defect and its inheritance is also necessary for genetic counseling. About 70% of cases are due to a 5q-q3 deletion in the paternally contributed chromosome. These deletions are optimally detected by FISH method. The other aproximately 30% of cases of PWS are due to maternal uniparental disomy (UPD), that can best be documented using microsatelllite pobes. Less then 2% of cases have an imprinting defect, which causes nonexpression of paternal genes in PWS critical region. This latter group is detectable through identification of parent-oforigin differences by using methylation sensitive SNRPN, a process called methylation analyses. Chromosome analysis by classical karyotyping method is usually a routine part of the evaluation of these patients, in order to rule out other abnormalities, and will also detect rare instances of translocations or other chromosome rearrangements. From the point of view of genetic counceling, none of the recurrence of PWS and its sister syndrome, AS, have involved the typical deletion or UPD, but rather have involved translocations and imprinting defects. Also, the methylation analysis, which confirm about 99% of cases without indicating the exact molecular mechanism, may be used in prenatal diagnosis, providing the knowledge of the correct developmental stage when the imprint is established in the germ line. Imprinting and epigenetic reprogramming in mammalian germ cells, the zygote and early embryos play crucial roles in regulating genome functions at critical stages of development. Aberrant chromatin states leading to aberrant gene expression patterns are determined by specific DNA methylation and histone modification processes (epigenetic modifications), as well as by the recently described activity of the ncrna (noncoding RNA). They can occur secondary to a DNA sequence modification or mutation in a cis- or trans-acting factor or as true or primary epimutation in the absence of any DNA sequence change. Primary epimutations often occur after fertilization and lead to somatic phenotype mosaicism.. It has been estimated that the rate of primary epimutaions is greater than DNA mutations and actually may be underestimated. Knowledge of the so called open windows of vulnerability of the genome during the crucial stages of development and their interaction with the environment would be beneficial for the activities of establishment of optimal diagnosis and therapeutic or preventive schemes. 20 Romanian Journal of Rare Diseases Supplement 2/200

21 9. The cytogenetic investigation before and after birth Gorduza E.V. University of Medicine and Pharmacy Gr. T. Popa Iaşi, Department of Medical Genetics The cytogenetic investigation (CI) identifies the number of chromosome and allows diagnosing the presence of chromosomal abnormality. The normal number of chromosome in humans is 46. The common numeric chromosomal abnormalities are trisomy and monosomy. The structural chromosomal abnormalities (SCA) are balanced or unbalanced. The balanced SCA inversions and translocations - are characterized by a normal phenotype because is present only a change of position of some chromosomal fragments without any quantitative modification. The unbalanced SCA deletions, duplications, isochromosomes, and ring chromosomes are characterized by an abnormal phenotype because is present a quantitative modification of some chromosomal fragments. The classical CI is based by analysis of human cell division. Usually, these cells are obtained after a short (T lymphocyte from blood after birth) or long harvest (amniocytes before birth) followed by stop of division in a bichromatidian stage. Finally, the chromosomes are displayed on a microscope slide and are analysed at optical microscope. Thus, we can identify the numerical and some structural chromosomal abnormalities. To optimize the diagnostic of chromosomal abnormalities of small size have been implemented molecular cytogenetic techniques. The most common technique is FISH, based by a molecular hybridization between a fluorescent probe and a chromosomal target. Using this technique we reveal the presence (normal status) or absence (deletion) of the chromosomal target. The FISH technique can be used both in prenatal or postnatal period and have a major advantage in the short period (-2 days) to obtain the final result. 0. Endocrine obesity in Prader Willi syndrome Corin Badiu, Gabi Madaras National Institute of Endocrinology, Bucharest, Romania badicrin@yahoo.co.uk Prader Willi syndrome (PWS) is a genetic disorder (5q-q3) characterized by short stature, hypogonadism leading to osteoporosis, delayed puberty, central hypocorticism and the most life threatening, excessive appetite which is followed by morbid obesity. Patients with PWS present reduced GH secretion, hypogonadotropic hypogonadism, abnormal appetite control and high pain threshold suggesting hypothalamic-pituitary dysfunction. However, all high resolution imaging studies are normal; due to changes in Chr 5, the hypothalamic function is disrupted. All patients with PWS show severe disturbances in appetite control resulting in hyperphagia and obesity. Peptides involved in hypothalamic appetite control as ghrelin, leptin, NPY/AGRP, POMC, and their cognate receptors, are involved in developmental processes, determine the threshold for signals of body fat below which increases in energy intake and reductions in energy expenditure. In addition, low GH and IGF level, central hypothyroidism, delayed puberty and central hypogonadism may impact upon the body composition. Despite the detailed knowledge about obesity mechanisms regulated at hypothalamic level, the pharmacological intervention is limited currently to substitution of proven endocrine deficiencies and GH treatment. The PWS brain seems wired for a positive energy balance, and very few pathways can counterbalance this genetic imprinting. Romanian Journal of Rare Diseases Supplement 2/200 2

22 . Neurological aspects in PWS Violeta Stan, Emergency Children s Hospital Louis Turcanu Timisoara Children with PWS show an unusual cognitive profile. They are often strong in visual organization and perception, including reading and vocabulary, but their spoken language (sometimes affected by hypernasality) is generally poorer than their comprehension. A marked skill in completing jigsaw puzzles has been noted. Auditory information processing and sequential processing are relatively poor, as are arithmetic and writing skills, visual and auditory short term memory and auditory attention span. These sometimes improve with age, but deficits in these areas remain throughout adulthood. 2. Obesity and diabetes in Prader Willi Syndrome (PWS) Aurelia Szekely, Zsuzsa Lázár, RPWS, Zalau Obesity is one of the defining characteristics of Prader Willi Syndrome. If not diagnosed in childhood based on the slowness of the fetal movements, the hypotonia, the morphological appearance, obesity leads to the suspicion of the diagnosis. There are multiple causes of obesity in PWS. It is characterized by the fact that it occurs primarily due to the permanent appetite, aggravated by the muscle hypotonia and the psychological structure of these patients. The fight against obesity in PWS should be permanent. In this struggle all stakeholders should be involved: family, doctors, social care takers and patient organizations. Only this way we can prevent the most severe complication, diabetes mellitus, which inevitably leads to other major complications. Once diabetes installed it must be permanently treated and weight loss battle continues with a more severe diet, daily exercise, physical therapy treatments, etc. Morbid obesity is preventable, can be reduced, so diabetes mellitus and its severe complications can be avoided, assuring this way for the patients with PWS longevity and much improved quality of life. 3. Prader-Willi Syndrome rare facts cardiac, renal and poisoning complications Gafencu Mihai, Gabriela Doros, Maria Puiu University of Medicine and Pharmacy V Babes, Timisoara Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal arm of chromosome 5 or by maternal disomy in the proximal arm of chromosome 5. In 887, Langdon-Down described the first patient. PWS has long term consequences affecting the quality of life of these children. Some parents do not think at all the long time consequences and doctors miss to prevent other. We will discuss primarily on the cardiovascular consequences of obesity and hypertension and then the kidney damage and the effect of drugs in therapy. We want to present a severe case of cardiac complications and one with renal failure. 22 Romanian Journal of Rare Diseases Supplement 2/200