Maroteaux-Lamy Syndrome

I admit that I don't know much about Maroteaux-Lamy Syndrome. I learned about it during medical school, and that's the extent of my knowledge. However, I was intrigued when someone brought it to my attention recently, so I did a search and landed on this description on Wikipedia:

Maroteaux–Lamy syndrome (also known as "Mucopolysaccharidosis type VI") is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB).


It is named for Pierre Maroteaux and Maurice Lamy.


Children with MPS VI, Maroteaux–Lamy syndrome, usually have normal intellectual development but share many of the physical symptoms found in Hurler syndrome. Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase, Maroteaux–Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatized nerves and nerve roots.


Growth is normal at first but stops suddenly around age 8. By age 10 children have developed a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes (particularly in the pelvic region) are progressive and limit movement. Many children also have umbilical or inguinal hernias. Nearly all children have some form of heart disease, usually involving valve dysfunction.


An enzyme replacement therapy, galsulfase (Naglazyme), was tested on patients with MPS VI and was successful in that it improved growth and joint movement. An experiment was then carried out to see whether an injection of the missing enzyme into the hips would help the range of motion and pain. Costing $350,000 a year, Naglazyme is one of the world's most expensive drugs.

Glomus tympanicum

What's fun about medicine is that you're constantly learning. In this week's New England Journal of Medicine (NEJM), there's a little photo (and video if you're online) of a lesion in someone's hear. The person was a 50-year-old woman who complained of some ear ringing (tinnitus) that was pulsatile.

Wouldn't you know it? It's glomus tympanicum.  Sorry, but I don't remember learning about this in medical school.  You won't find any information on Wikipedia either, so you'll have to do some traditional research to learn about it.

Timeline of medicine and medical technology

I love the article on Wikipedia titled, "Timeline of medicine and medical technology." The timeline begins at 2600 BC and starts with Egyptian medicine. Then, it jumps to 2596 BC and talks about Chinese medicine.

So, does this mean that the earliest forms of medicine that we can document goes back to Egypt and China?

Now, if we jump to modern times, we see the following advances listed in this article:

•    2003 - Carlo Urbani, of Doctors without Borders alerted the World Health Organization to the threat of the SARS virus, triggering the most effective response to an epidemic in history. Urbani succumbs to the disease himself in less than a month.
•    2005 - Jean-Michel Dubernard performs the first partial face transplant
•    2006 - First HPV vaccine approved
•    2006 - Second rotavirus vaccine approved (first was withdrawn)
•    2008 - Laurent Lantieri performs the first full face transplant

What will be the major advance in medical technology in 2010 and will it make it to Wikipedia? 

Camp Twitch and Shout

I love summer camps. However, "Camp Twitch and Shout" is not your typical summer camp. This is a camp for people who have Tourette syndrome (according to Wikipedia is also called Tourette's syndrome, Tourette's disorder, Gilles de la Tourette syndrome, GTS or, more commonly, simply Tourette's or TS). It's a neurological disorder characterized by motor and voice tics.

According to the Centers for Disease Control and Prevention, three out of every 1,000 school-age children are believed to have Tourette syndrome. The cause is unknown, but genetics appear to play a role. Most children develop the condition between 7 and 10, and if their tics are mild to moderate, they usually require no medicine to control them. Symptoms usually peak during the late teens or early 20s.

What goes on at Camp Twitch and Shout? Children with Tourette's get to have fun. It's so great to see social support groups like these camps. We have CaringBridge and other online social support sites for people who are struggling with various health conditions. When you get to meet at a camp, interact, and have fun, then I'm sure some unique friendships develop. Click here for the CNN story.

50% of Physicians are using Wikipedia

According to a study performed by Manhattan Research, almost 50% of physicians are going to Wikipedia to view health condition information. Why? Because they use search engines like Google to look up information about diseases and various conditions. Isn't it amazing how we rely on Internet search engines for information? The Manhattan Research study, titled Taking the Pulse, surveyed physicians during the first quarter of 2009.