Prader-Willi Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Prader-Willi Syndrome, including details on pws, symptoms, treatment, causes.

Morbid obesity in an adolescent with Prader-Willi syndrome.

Santos VM, Henrique de Paula F, Osterne EM, Nery NS, Turra TZ

Catholic University Medical Course, and Department of Internal Medicine from the Armed Forces Hospital (HFA), Brasilia-DF, Brazil. vitorinomodesto@gmail.com

Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17 year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m(2), that was admitted in anasarca, with marked cyanosis, dyspnea and oliguria. She presented high levels of blood urea, creatinine and aminotransferases, in addition to hyperkalemia and hyperuricemia. She had been in regular use of fluoxetine during the last six months, and evolved with severe high blood pressure and respiratory failure, which needed intensive care support. Moreover, sequels and clear signs of recent self-injuries were observed in her trunk, forearms and hands. The findings of morbid obesity, anasarca, self-injury, hyperuricemia and hypoxemia in Prader-Willi syndrome are emphasized.

Published 22 June 2009 in Rev Med Chil, 137(2): 264-8.
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Articles on Prader-Willi Syndrome published 9 June 2009:

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.   Genome Res.

Copy-number variants (CNVs) are substantial contributors to human disease A central challenge in CNV-disease association studies is to characterize the pathogenicity of rare and possibly incompletely penetrant events - a task that requires the accurate detection of rare CNVs in large numbers of cases and controls. The high cost, low throughput, and inflexibility of currently available technologies limit our ability to perform these studies. We have adapted the Illumina BeadXpress SNP genotyping ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 5 June 2009:

Short-Term Effects of GH Treatment on the Upper Airways of Non Severely Obese Children With Prader-Willi Syndrome.   J Endocrinol Invest.

Aims: The aim of this study was to establish whether short-term GH treatment causes obstructive apnoea in patients with Prader-Willi syndrome and normal upper airway patency. Subjects and Methods: We performed an observational longitudinal six-week GH treatment study. Thirty-four non-severely obese Prader-Willi syndrome patients (20 boys, age range 0.94-11.8 yrs, median 2.24 yrs) entered an observational longitudinal six-week study. Sixteen boys received rhGH treatment; the remaining 18 ... [Abstract] [Full-text]

A Deletion of the HBII-85 Class of Small Nucleolar RNAs (snoRNAs) is Associated with Hyperphagia, Obesity and Hypogonadism.   Hum Mol Genet.

Objective Genetic studies in patients with severe early onset obesity have provided insights into the molecular and physiological pathways that regulate body weight in humans. We report a 19 year-old male with hyperphagia and severe obesity, mild learning difficulties and hypogonadism, in whom diagnostic tests for Prader-Willi syndrome (PWS) had been negative. Research Design and Methods We carried out detailed clinical and metabolic phenotyping of this patient and investigated the genetic ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 4 June 2009:

Scoliosis in patients with Prader Willi Syndrome - comparisons of conservative and surgical treatment.   Scoliosis, 4: 10.

ABSTRACT: : In children with Prader Willi syndrome (PWS), besides growth hormone (GH) therapy, control of the food environment and regular exercise, surgical treatment of scoliosis deformities seems the treatment of choice, even though the risks of spinal surgery in this specific population is very high. Therefore the question arises as to whether the risks of spinal surgery outweigh the benefits in a condition, which bears significant risks per se. The purpose of this systematic review of the ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 3 June 2009:

The European Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically determined neurodevelopmental disorder.   J Intellect Disabil Res, 53(6): 538-47.

BACKGROUND: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research database has been established to structure data collection and to enable multinational investigations into the development of children and adults with ... [Abstract] [Full-text]

Water intake and risk of hyponatraemia in Prader-Willi syndrome.   J Intellect Disabil Res, 53(6): 521-8.

BACKGROUND AND METHODS: Unusual water intake and drinking behaviour has occasionally been observed in individuals with Prader-Willi syndrome (PWS). The aim of this study is to explore whether this observation is a part of the PWS phenotype and what the consequences may be. The parents of 51 individuals with PWS (age range 2-40 years) were asked by questionnaire to answer on past and present water intake, drinking behaviour, fluid preferences and medical treatment in their PWS-affected and ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 29 May 2009:

Assessment of physical function in adults with Prader-Willi syndrome.   Disabil Rehabil.

Purpose. To evaluate implementation of at test battery for assessing physical function in adults with Prader-Willi syndrome (PWS). Method. Forty-three adults with PWS, 20 men and 23 women, mean age 29 +/- 9 years. Body mass index (BMI) and body composition were measured. A test battery a.m. Guralnik for standing balance, 2.4 m and 10 m walk and repeated rising from a chair was scored and evaluated. Results. Mean BMI was 29.4 +/- 9.1 kg/m(2), body fat mass (FM) 26.0 +/- 16.1 kg. The adults with ... [Abstract] [Full-text]

Articles on Prader-Willi Syndrome published 25 May 2009:

Analysis of NREM sleep in children with Prader-Willi syndrome and the effect of growth hormone treatment.   Sleep Med, 10(6): 646-50.

OBJECTIVES: Only few studies are available in the literature on sleep in children with Prader-Willi syndrome (PWS) and one single study analyzed the cyclic alternating pattern (CAP) in young adults with PWS, showing that patients with a higher proportion of A1 subtypes presented less severe GH deficiency. The aims of our study were to evaluate CAP in children with PWS compared to an age-matched control group and to evaluate the differences between PWS children with (GH+) and without (GH-) GH ... [Abstract] [Full-text]

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