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Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome
BACKGROUND: This study reports a case of Prader Willi syndrome (PWS), a genomic imprinting disease related to chromosome regions 15q11.2–q13 15, which includes hypothalamic dysfunction leading to hyperphagia, obesity, shortness, sleep abnormalities. Our case is extremely severe, in comparison to oth...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818533/ https://www.ncbi.nlm.nih.gov/pubmed/27036220 http://dx.doi.org/10.1186/s13104-016-1981-y |
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author | Di Lorenzo, Rosaria Sberveglieri, Sara Marrama, Donatella Landi, Giulia Ferri, Paola |
author_facet | Di Lorenzo, Rosaria Sberveglieri, Sara Marrama, Donatella Landi, Giulia Ferri, Paola |
author_sort | Di Lorenzo, Rosaria |
collection | PubMed |
description | BACKGROUND: This study reports a case of Prader Willi syndrome (PWS), a genomic imprinting disease related to chromosome regions 15q11.2–q13 15, which includes hypothalamic dysfunction leading to hyperphagia, obesity, shortness, sleep abnormalities. Our case is extremely severe, in comparison to other PWS cases described in literature, due to the association with severe emotional and psychiatric symptoms: oppositional behaviour, rigidity of thought, skin picking and pathological hoarding. CASE PRESENTATION: We described the case of a Caucasian male patient suffering from PWS, treated in outpatient care by local Mental Health Centre and supported by Social Service, who was admitted to a residential rehabilitative facility. After a 2-year follow-up, the patient showed a global improvement in symptoms and functioning, as registered by the rating scales administered. At the end of observation period, we also reported an important improvement in weight control, reducing the risk of obesity and related diseases, therefore improving the prognosis of life. CONCLUSION: This case highlights the need for long-term, individualized and multi-professional treatment in patients suffering from a complex genetic syndrome with both organic and psychological alterations, for which medical care setting and pharmacological treatments are not sufficient. Clinical observation of this case leads us to compare PWS to drug addiction and indirectly endorse the neurophysiological hypothesis that food and drugs stimulate the same brain circuits in the limbic system. |
format | Online Article Text |
id | pubmed-4818533 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-48185332016-04-03 Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome Di Lorenzo, Rosaria Sberveglieri, Sara Marrama, Donatella Landi, Giulia Ferri, Paola BMC Res Notes Case Report BACKGROUND: This study reports a case of Prader Willi syndrome (PWS), a genomic imprinting disease related to chromosome regions 15q11.2–q13 15, which includes hypothalamic dysfunction leading to hyperphagia, obesity, shortness, sleep abnormalities. Our case is extremely severe, in comparison to other PWS cases described in literature, due to the association with severe emotional and psychiatric symptoms: oppositional behaviour, rigidity of thought, skin picking and pathological hoarding. CASE PRESENTATION: We described the case of a Caucasian male patient suffering from PWS, treated in outpatient care by local Mental Health Centre and supported by Social Service, who was admitted to a residential rehabilitative facility. After a 2-year follow-up, the patient showed a global improvement in symptoms and functioning, as registered by the rating scales administered. At the end of observation period, we also reported an important improvement in weight control, reducing the risk of obesity and related diseases, therefore improving the prognosis of life. CONCLUSION: This case highlights the need for long-term, individualized and multi-professional treatment in patients suffering from a complex genetic syndrome with both organic and psychological alterations, for which medical care setting and pharmacological treatments are not sufficient. Clinical observation of this case leads us to compare PWS to drug addiction and indirectly endorse the neurophysiological hypothesis that food and drugs stimulate the same brain circuits in the limbic system. BioMed Central 2016-04-01 /pmc/articles/PMC4818533/ /pubmed/27036220 http://dx.doi.org/10.1186/s13104-016-1981-y Text en © Di Lorenzo et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Di Lorenzo, Rosaria Sberveglieri, Sara Marrama, Donatella Landi, Giulia Ferri, Paola Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome |
title | Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome |
title_full | Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome |
title_fullStr | Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome |
title_full_unstemmed | Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome |
title_short | Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome |
title_sort | weight control and behavior rehabilitation in a patient suffering from prader willi syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818533/ https://www.ncbi.nlm.nih.gov/pubmed/27036220 http://dx.doi.org/10.1186/s13104-016-1981-y |
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