Prader Willi Case Study

SteveNNP, MSN, NP · Jul 14, 2008

start with the cause, genetic mutation... then maybe look at possible teratogens.

Pediatric Critical Care Columnist · Jul 14, 2008

Try checking out the Online Mendelian Inheritance in Man website. They're the complete package there!! http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270 will get you to their entry on Prader Willi. This is one of the syndromes my daughter is studying for her PhD in human genetics, along with Angelman and Beckwith-Weidemann and their hypothesized incidence in artificial reproductive technologies.

Daytonite, BSN, RN · Jul 15, 2008

This is from http://www.merck.com/mmpe/sec19/ch282/ch282f.html#sec19-ch282-ch282f-1611 - "Male Hypogonadism in Children" in the online Merck Manual. I strongly recommend that you read the entire entry of the link.

Prader-Willi syndrome is characterized by diminished fetal activity, failure to thrive during early childhood, obesity during childhood and adolescence, muscular hypotonia, mental retardation, and hypogonadotropic hypogonadism. The syndrome is caused by deletion or disruption of a gene or genes on the proximal long arm of paternal chromosome 15 or by uniparental disomy of maternal chromosome 15. Failure to thrive due to hypotonia and feeding difficulties during infancy usually resolves after age 6 to 12 mo. From 12 to 18 mo onward, uncontrollable hyperphagia causes excessive weight gain and psychologic problems; plethoric obesity becomes the most striking feature. Rapid weight gain continues into adulthood; stature remains short. Features include emotional lability, poor gross motor skills, facial abnormalities (eg, a narrow bitemporal dimension, almond-shaped eyes, a mouth with thin upper lips and down-turned corners), and skeletal abnormalities (eg, scoliosis, kyphosis, osteopenia). Hands and feet are small. Other features include cryptorchidism and a hypoplastic member and scrotum.

SteveNNP, MSN, NP · Jul 15, 2008

We actually covered this briefly in my genetics class yesterday. The UPD "Uniparental Disomy" or "imprinting" mutation happens when the child receives both copies (alleles) of a gene from one parent instead of one from each parent. The paternal copy is always more active, so with 2 copies from Dad, it becomes an overexpression mutation.... I have to say that I'm starting to consider a PhD in Medical Genetics myself!

tiffanymarie81 · Jul 15, 2008

Thank you all for your help. I guess i'm still not understand predisposing factors, but I am understanding a lot more. THANKS!

pagandeva2000, LPN · Jul 17, 2008

You can also try and check for the syndrome in Wikipedia. I think I remember reading something about it there...very interesting. I searched it after watching a medical documentary about it.