Clinical and Molecular Characterization of Prader-Willi Syndrome

Abstract

Clinical suspicion is vital for early detection of PWS. Confirmation of the diagnosis requires complex multi-tier molecular genetic testing.

The potential of oxytocin for the treatment of hyperphagia in Prader-Willi Syndrome

“…Prader-Willi syndrome (PWS) is a complex, multisystem neurodevelopmental disorder that occurs with a frequency of approximately 1/10,000 to 1/30,000 [1] . PWS results from the loss of expression of paternally derived genes by a variety of mechanisms, which include paternally inherited deletions (70-75%), maternal uniparental disomy (20-30%), and imprinting defects (2-5%) [2,3]. DNA methylation analysis will correctly diagnose more than 99% of cases, and is the most sensitive genetic test available [1][2][3][4].…”

“…PWS results from the loss of expression of paternally derived genes by a variety of mechanisms, which include paternally inherited deletions (70-75%), maternal uniparental disomy (20-30%), and imprinting defects (2-5%) [2,3]. DNA methylation analysis will correctly diagnose more than 99% of cases, and is the most sensitive genetic test available [1][2][3][4]. The genetic anomalies lead to a distinctive phenotype that includes central hypotonia, cognitive delay, developmental disabilities, behavioral problems, obesity, growth hormone deficiency, hypogonadism, and lifethreatening hyperphagia [1].…”

A Rare Cause of a Rectal Tumor-like Lesion

“…Prader-Willi syndrome (PWS) is a neurogenetic multisystem disorder characterized by short stature, hypogonadism, dysmorphic features, hyperphagia, mental retardation, and behavior problems, including temper tantrums, stubbornness, obsessive-compulsive behaviors, and skin picking. 1 Bhargava et al 2 reported 3 patients with PWS in whom an extension of this skin picking behavior to rectal picking resulted in significant lower gastrointestinal bleeding and anorectal disease. Occasionally, the lesion may exhibit a tumor-like elevation, 3 similar to that observed in this patient, which is thought to result from the physical and mechanical irritation caused by repetitive scratching of the rectum with fingers.…”

Multimodal imaging in a patient with Prader–Willi syndrome

“…Mild intellectual impairment, hypogonadism and sleep apnea have been also associated with PWS. Patients often exhibit characteristic facial features such as almond-shaped up-slanted palpebral fissures, thin upper lip and small mouth with down-turned corners [ 2 ].…”

“…Hypopigmentation of the iris and choroid, diabetic retinopathy, cataract, congenital ocular fibrosis syndrome and congenital ectropion uvea have also been reported [ 3 ]. Table 1 summarizes intraocular findings reported by previous publications in the context of PWS [ 2 – 29 ]. Herein, we report novel ocular findings in a case of PWS using multimodal imaging.…”