Prader Willi Syndrome

Prader-Willi syndrome is a condition characterized by mental retardation, hypotonia, hypogonadism, and obesity. It is a sporadic multisystem disorder with an incidence of 1 in 10,000. It is due to a chromosomal deletion on the 15th chromosome. Presentation in infancy is of poor suck, hypotonia, developmental delay, and early failure to thrive. During childhood, the poor eating habits change to hyperphagia and obesity, which becomes a major problem for health and life. Consequences of obesity include somnolence, hypoventilation, cor pulmonale, and non-insulin-dependent diabetes mellitus. Associated problems are scoliosis, strabismus, and inability to vomit. Occasional problems may include decreased sensitivity to pain, seizure disorder, short stature, skin picking, easy bruisability, fractures from minor trauma, and acanthosis nigricans.

Obesity develops due to hyperphagia, inability to vomit, and decreased caloric requirements. Children become obsessed with food and eating. Abnormal behaviors are manifested with gorging, foraging for food, eating inedibles, and violent temper outbursts when eating is thwarted. Respiratory problems occur secondary to massive obesity. Pickwickian syndrome with hypoventilation, hypercapnia, hypoxia, and right-sided heart failure have been seen in older children. Impaired breathing leads to carbon dioxide retention, acidosis, constriction of the pulmonary arterioles, pulmonary hypertension, and the chance of pulmonary embolus. Non-insulin-dependent diabetes mellitus is seen in some patients related to their obesity. Most people with diabetes can be managed with oral hypoglycemics and/or weight loss. Insulin is rarely required, and response to insulin may be unpredictable. Early atherosclerosis and glomerulosclerosis may occur secondary to the diabetes.

The inability to vomit can be of concern in the ED. Hyperphagia may result in food foraging, consumption of nonfood materials, and toxic ingestions. In this patient population, ipecac should be avoided. Ipecac toxicity can result if the patient is unable to vomit. Gastric aspiration or other techniques should be used.

Respiratory insufficiency with hypoventilation is frequently not responsive to hypercapnia. Medroxyprogesterone acetate may be helpful as a respiratory stimulant in some cases. Gastric perforation as a consequence of overeating is seen in rare cases.

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