A 14-year-old patient with Prader-Willi syndrome: a case report
Prader-Willi Syndrome (PWS) is a disorder resulting from a loss of genetic information on chromosome 15q11.2-q13 inherited from the father. It can be caused by paternal deletions (65-75%) or uniparental maternal disomy (20-30%). The prevalence of PWS is estimated to be 1/10,000 - 1/20,000 births.1 A...
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| Format: | Article |
| Language: | English |
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Indonesian Pediatric Society Publishing House
2023-02-01
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| Series: | Paediatrica Indonesiana |
| Subjects: | |
| Online Access: | https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2603 |
| _version_ | 1811155389347004416 |
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| author | Marlinna Marlinna Madarina Julia Noormanto Noormanto |
| author_facet | Marlinna Marlinna Madarina Julia Noormanto Noormanto |
| author_sort | Marlinna Marlinna |
| collection | DOAJ |
| description | Prader-Willi Syndrome (PWS) is a disorder resulting from a loss of genetic information on chromosome 15q11.2-q13 inherited from the father. It can be caused by paternal deletions (65-75%) or uniparental maternal disomy (20-30%). The prevalence of PWS is estimated to be 1/10,000 - 1/20,000 births.1 Although its incidence is relatively rare, PWS can cause major health problems for patients and decreased quality of life for their families.
The course of PWS is characterized by severe hypotonia in the neonatal period, severe feeding problems resulting in growth failure, as well as small hands and feet. Hypogonadism manifests as genital hypoplasia, delayed puberty, and infertility. Children with PWS have delayed motor and language development. Most patients have some degree of intellectual disability. Hyperphagia and obesity occur in early childhood. The patient’s excessive eating behavior affects the patient’s and family’s quality of life, and is often responsible for high morbidity and mortality. |
| first_indexed | 2024-04-10T04:33:26Z |
| format | Article |
| id | doaj.art-ea06332a49004ba1b9705a3386ba9cb6 |
| institution | Directory Open Access Journal |
| issn | 0030-9311 2338-476X |
| language | English |
| last_indexed | 2024-04-10T04:33:26Z |
| publishDate | 2023-02-01 |
| publisher | Indonesian Pediatric Society Publishing House |
| record_format | Article |
| series | Paediatrica Indonesiana |
| spelling | doaj.art-ea06332a49004ba1b9705a3386ba9cb62023-03-10T07:49:42ZengIndonesian Pediatric Society Publishing HousePaediatrica Indonesiana0030-93112338-476X2023-02-0163151610.14238/pi63.1.2023.51-62603A 14-year-old patient with Prader-Willi syndrome: a case reportMarlinna Marlinna0Madarina Julia1Noormanto Noormanto2Department of Child Health, Faculty of Medicine, Public Health, and Nursing Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Central JavaDepartment of Child Health, Faculty of Medicine, Public Health, and Nursing Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Central JavaDepartment of Child Health, Faculty of Medicine, Public Health, and Nursing Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Central JavaPrader-Willi Syndrome (PWS) is a disorder resulting from a loss of genetic information on chromosome 15q11.2-q13 inherited from the father. It can be caused by paternal deletions (65-75%) or uniparental maternal disomy (20-30%). The prevalence of PWS is estimated to be 1/10,000 - 1/20,000 births.1 Although its incidence is relatively rare, PWS can cause major health problems for patients and decreased quality of life for their families. The course of PWS is characterized by severe hypotonia in the neonatal period, severe feeding problems resulting in growth failure, as well as small hands and feet. Hypogonadism manifests as genital hypoplasia, delayed puberty, and infertility. Children with PWS have delayed motor and language development. Most patients have some degree of intellectual disability. Hyperphagia and obesity occur in early childhood. The patient’s excessive eating behavior affects the patient’s and family’s quality of life, and is often responsible for high morbidity and mortality.https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2603case report; prader-willi syndrome; hyperphagia; complications; multidisciplinary management; outcome |
| spellingShingle | Marlinna Marlinna Madarina Julia Noormanto Noormanto A 14-year-old patient with Prader-Willi syndrome: a case report Paediatrica Indonesiana case report; prader-willi syndrome; hyperphagia; complications; multidisciplinary management; outcome |
| title | A 14-year-old patient with Prader-Willi syndrome: a case report |
| title_full | A 14-year-old patient with Prader-Willi syndrome: a case report |
| title_fullStr | A 14-year-old patient with Prader-Willi syndrome: a case report |
| title_full_unstemmed | A 14-year-old patient with Prader-Willi syndrome: a case report |
| title_short | A 14-year-old patient with Prader-Willi syndrome: a case report |
| title_sort | 14 year old patient with prader willi syndrome a case report |
| topic | case report; prader-willi syndrome; hyperphagia; complications; multidisciplinary management; outcome |
| url | https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2603 |
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