Prader-Willi syndrome is a rare genetic disorder that’s not very well known to the public or even among medical professionals. If not diagnosed (which is the case in many developing countries), it can lead to a range of puzzling yet severe symptoms. Currently, there is a flurry of interest in this disease due to speculation that Lu Hao, a 132-pound 3-year-old Chinese boy, may have this disease.

UK’s Daily Mail recently reported on Hao's story. Below is a picture of Hao:

Prader-Willi syndrome was discovered in 1956 by a team of Swiss scientists. Over the years, it has received some media coverage, including UK Channel 4’s program titled Can't Stop Eating and TLC’s program My Deadly Appetite.

Prader-Willi occurs in about 1 in 15,000 births.

The most visible symptom of it is extreme obesity, particularly in children. According to the US Prader-Willi Syndrome Association, some affected individuals suffer from “a chronic feeling of hunger” and have “a metabolism that utilizes drastically fewer calories than normal.”

Other behavior symptoms include below-average intelligence and compulsive behavior. Physical symptoms include short stature and small hands and feet.

Prader-Willi is spectrum disorder, meaning the severity of the symptoms vary individually. Therefore, while some affected individuals may be extremely obese, others may not.

The fact that it’s a spectrum disorder and the absence of a uniquely identifiable symptom sometimes results in the disorder not being diagnosed and treated, especially in developing countries.

In the United States, Prader-Willi is currently diagnosed by genetic testing. Once it’s confirmed, treatment begins. Although there are no complete cures, medical treatments like growth hormones and behavior therapy can be effective in addressing the symptoms.

However, if this disease isn’t diagnosed in children, it can prove to be an extreme challenge to parents who aren’t even aware of the existence of this disorder.

In Lu Hao’s case, his mother said if he isn’t fed, he cries non-stop, reported the Daily Mail. To help Hao lose weight, his parents are trying to get him to exercise more, but that just makes him even hungrier and gain more weight.

If Hao does indeed have Prader-Willi, his case illustrates that the lack of proper diagnosis, understanding, and treatment can result in unsuccessful and uninformed attempts to combat Prader-Willi's often life-threatening symptoms.

Below is an undated photo of a child with Prader-Willi Syndrome (from drugster.info):

United kingdom Medicine