10 EXTREMELY BIZARRE MALFUNCTIONS OF THE BODY

10 More Extremely Bizarre Malfunctions Of The Body
By Flame Horse, Listverse, 23 November 2013.

It is interesting that we deem a disorder or disease “bizarre” precisely because of its rarity. One disease may be more visually repulsive than another, but in the end, we’re most impressed by whichever rare disorder we just don’t understand. If brains that block fear or stomachs that brew beer were as common as the cold, maybe they wouldn’t raise any eyebrows. But for now, they seem like examples of some of the very strange conditions that the human body can experience.

10. Walking Dead Syndrome

When the brain is injured in any way, the result can very easily become the stuff of science fiction or horror. Walking Dead syndrome (also called “Cotard Delusion,” after French doctor Jules Cotard) makes sufferers think they have died or are rotting away. The delusion is caused by the degeneration of neuronal synapses due to Alzheimer’s, brain trauma, or any of quite a few other disorders. The decay leads to a breakdown in the neuron chain between the facial recognition and emotion centres of the brain. Some victims of this delusion become convinced that because they are dead, there is no longer any point in eating, and they starve to death.

One of the best known recent examples is that of a Scotsman, identified as “WI,” who suffered severe brain trauma in a motorcycle accident. After receiving a clean bill of health and leaving an Edinburgh hospital, he went to South Africa for a vacation. By the time he arrived, he had convinced himself that he was dead and had gone to hell. South Africa’s heat seems to confirm the idea.

WI figured he had died from the brain injury, or from septicemia, or from AIDS - he considered AIDS a possibility only because he’d read an article on it not long before his accident. He even believed that his mother, accompanying him during the trip, was not actually with him. He thought that she was asleep in Scotland, and he’d stolen her soul to use as transportation around hell.

9. Paediatric Myelofibrosis

Photo credit: Beat Rager

This disease is not particularly weird, but it’s extremely rare. Myelofibrosis is a bone marrow disorder, and though it affects thousands of adults, only 50 cases of its paediatric version have been documented throughout all of history. The disease causes bone marrow to produce excess fibrous connective tissue, which inhibits the marrow’s production of blood cells. The symptoms include general and severe fatigue, infection susceptibility that usually results in pneumonia, gout, shortness of breath, easy bruising, enlarged spleen, and - at all times - bone pain.

One of the disease’s rare sufferers is 16-year-old Lukas Larsson of Colorado, who was not born with myelofibrosis but acquired it at about the age of 15. He was not diagnosed for a full year, and there is now only one way for him to survive: a complete bone marrow transplantation. Without a transplant, this disease is nearly always fatal, so all the marrow in every bone in his body must be taken out and replaced with marrow from donors.

8. Encephalotrigeminal Angiomatosis

Photo credit: WebMD

This is also called Sturge-Weber syndrome, and although doctors know precisely what causes it, they are powerless to stop it from happening. A gene mutation hits the sufferer while still in the womb, leading to excess blood vessels just under the skin on the side of the face. The classic symptom for a new-born is a “port wine” birthmark across the forehead and one eye (similar to Mikhail Gorbachev’s famous birthmark, though he does not have this disorder).

The extra blood vessels under the sufferer’s skin surround the trigeminal nerve, which happens to be the primary nerve responsible for headaches. Other symptoms include excess blood vessels in the brain’s inner lining, severe mental retardation, and intense glaucoma in about half of cases. Glaucoma is excessive pressure in the eyes, which eventually leads to blindness by squeezing the eyeball. In cases of Sturge-Weber, the pressure can become so great that it forces the eyeball out of the socket.

The excess blood vessels over the brain kill large tracts of nerve cells in the cerebral cortex. This causes severe convulsions that can make the victim to “jackknife” or bend sharply backward, risking damage to the spine and back muscles. The only treatment to combat these convulsions is surgery to remove the affected brain areas.

7. Gut Fermentation Syndrome

This may sound wonderful on the surface. Eat anything you want, and that food will make you drunk - very drunk, if you eat as much carbohydrates as most of us. But extreme drunkenness precedes extreme hangovers. Add in the frustration of everyone thinking you’ve been drinking and are lying about it, and you have the case of a 61-year-old Texas man from earlier this year. For five years, he’d routinely gotten drunk without actually imbibing any alcohol at all. His and his wife were both baffled and even bought their own home Breathalyzer test.

In September, he checked into the emergency room with a blood alcohol level of 0.37, nearly five times the legal level for intoxication. He insisted he was a teetotaller, and the doctors laughed, but they placed him under observation. Twenty-four hours later, having had no alcohol, he was still falling-down drunk.

Then the doctors found out why. His stomach does not digest the sugars in carbohydrates; it ferments them. Excess yeast grows in response to any starchy food and then converts the starch into ethanol before his stomach digests it. Assuming a healthy diet, this would enable a person to stay drunk almost all the time without developing a beer gut from booze’s empty calories. Alcohol’s effect on the liver, however, would very much still be a problem.

For now, “auto-brewery syndrome” syndrome is so rare that the few papers written on the subject have to specifically request that doctors take it seriously.

6. Microcephaly Capillary Malformation Syndrome

Photo credit: Public Library of Science

There are only 11 known cases of this disorder. One of its victims is Finn Straub of Connecticut, whose parents were told he would die before his first birthday. He had his second birthday in September and is still alive, which is almost unheard of given the disorder. But if he should survive well into his childhood or beyond, he will never have an IQ much higher than 30.

“Microcephaly” means Finn’s brain and cranium did not develop completely in utero. “Capillary malformation” means his blood vessels have branched excessively and lie too close to the epidermis, giving his whole body small “port wine” birthmarks. These capillary malformations aren’t fatal, but a brain so severely underdeveloped results in a wide variety of problems we don’t normally think of. His heart can’t carry fluid away from the chest cavity, his body is so weak that he can barely move his head, and he doesn’t even have the energy to cry.

This syndrome is totally genetic and yet so rare that it is impossible to predict before conception.

5. Osteogenesis Imperfecta

You might recognize this disorder from the Shyamalan film Unbreakable, but it’s real and affects one in 20,000 people. With this disorder, the body manufactures insufficient or defective collagen. Bones therefore break very easily, giving the disease the nickname “brittle bone disease.”

Samuel L. Jackson’s Unbreakable character suffers from Type 1 of OI. He tells Bruce Willis’s character that there are four types, and those with Type 4 “don’t last very long.” Actually, there are eight types, and Type 2 is the most severe. With Type 1, bones form but break as easily as glass. The body grows slowly and rarely attains average height, the spine permanently curves from weak joint tissue, and the sense of hearing often breaks down. Type 2 has more intense versions of all these symptoms, and most victims die within their first year of life.

Adults with Type 2 are extremely rare, but all sufferers have to take extreme precaution in their daily lives. Such is the case with Ellen Dollar, who broke three dozen bones before turning 12 and then went on to have a daughter who also suffers from the condition. Her daughter one day tried holding a laptop with one hand. Its weight snapped both of her forearm bones.

4. Body Integrity Identity Disorder

People with this disorder want a body part amputated because they feel a constant sense that it doesn’t belong to them. Unlike apotemnophilia, a sexual fetish involving oneself as an amputee, BIID is likened to gender identity disorder, which seems to be more common. It may also be a psychosis linked to a fault in the brain’s body mapping centre. This centre in the right parietal lobe determines our definitions of “personal space,” and if anything undesirable ventures into your personal space, alarm bells sound. Those who suffer from BIID feel as though a body part, usually a limb, is an alien object that has invaded their space.

Most victims don’t go all the way with this delusion and have the body part cut off, and even fewer do the surgery themselves - this would set off entirely different alarm bells in the brain’s fear centres. But it does happen. In 2000, Scottish surgeon Dr. Robert Smith agreed to cut off the healthy legs of two different people who threatened to otherwise do the deed themselves. He claimed that to defy such a threat would be a crime against the Hippocratic Oath.

3. Cancer Of The Teeth

It is difficult to determine the very rarest form of cancer, but it may be malignant primary cardiac sarcoma, or heart cancer. It is theoretically possible to develop cancer in any part of the body made up of living tissue, from red or white blood cells to the neurons of the brain. Cancer of the teeth is also perfectly possible, since the teeth receive blood flow. But it’s so rare that any case receives global medical scrutiny, fascinating doctors the way the moon landing thrilled the public.

Tooth cancer’s technical term is “gigantiform cementoma.” It begins as a tumour in the tooth and, if unchecked, grows until it takes over the entire face. Because of its rarity, it almost always remains unnoticed until it manifests itself as a grotesque swelling around the mouth, either in the chin or jaw, or in the cheek.

The most well-known case is that of Novemthree Siahaan from Batam Island, Indonesia, who died at the age of six. When his family took him to Taiwanese doctors, the nearest ones who handle the problem, they immediately undertook surgery to remove the tumours. These four tumours had spread from tooth to tooth and then to all facial tissues and bones. They’d become so large that they completely obscured Siahaan’s sight in both eyes and shut off his sinus cavities. He could only drink water by looking straight up so the fluid would run down his throat on its own.

2. Crimean-Congolese Haemorrhagic Fever

CCHF’s pathology is similar to that of Ebola, but virologists who have observed its first-hand claim that Ebola pales in comparison. The CCHF mortality rate if treated is an extraordinarily high 30 percent. This is because CCHF, like Ebola, kills by liquefying the insides, but it gestates much faster than Ebola. It melts organs, especially the liver, and it typically does this faster than the immune system can get a handle on it.

The disease is spread by Hyalomma ticks. It’s the only viral disease on this list, and antibiotics are useless against a virus. After only one to three days, flu-like symptoms begin. External signs of haemorrhaging begin within three to five days if the first symptoms are not dealt with. Lesions on the inside of the throat eventually erupt, risking death by drowning you in your own blood. General mental confusion follows, with blood from the nose and in the vomit, urine, and faeces.

Because the body attempts coagulation everywhere at once, it runs out of platelets and haemorrhages from the mouth, nose, eyes, ears, and even pores. With good treatment and a strong immune system, most victims should survive, but recovery takes about a week and a half to become noticeable. Until then, there is no telling if the victim will live or melt to death from the inside out. For the 30 percent who die, death from multiple organ failure comes in less than two weeks.

1. Cushing’s Syndrome

Photo credit: The Mirror

The common version of this syndrome isn’t too bizarre on its own. Steroid medications make the adrenal glands secrete too many corticosteroids, and doctors treat the disease by simply weaning the patient off the medication. The rarer form, however, is caused by an adrenal adenoma, a benign tumour on the adrenal gland that is usually removed with the gland. Thirty-eight-year-old Jordy Cernik suffered from adenomas on both glands and had to have both removed. Here is where it becomes bizarre: without his adrenal glands to secrete adrenaline, he is now incapable of feeling fear.

Fear can be good or bad. You ride roller coasters for the controlled thrill of almost dying , but when someone robs you at gunpoint, you must bury your fear to function. Cernik understands those situations in which he should feel fear, since he was perfectly normal before the surgery, but he simply cannot feel the sensation. Someone with Cernik’s disorder might comply with the mugger, or play dead at the feet of a bear, but they will not panic or think too quickly.

Post-surgery, Cernik went skydiving, which he says he’d earlier never have dared try. As he entered the plane, he felt nothing. As he stepped to the door at 3,000 meters (10,000 ft), he felt nothing. While he plummeted, he felt nothing. His heart rate did not fluctuate at all, because in such a situation, adrenaline is what forces the heart rate to climb. He no longer has any adrenaline.

Sounds great, but such oddities always come at a price. Adrenaline, along with endorphins, is one of only two natural analgesics produced by the body. Conditions such as minor arthritis that we can ignore cause Cernik chronic suffering. “I’m always in pain,” he claims. And adrenaline does a lot more than kill pain - those who have their adrenal glands removed frequently suffer severe and rapid weight gain.

[Source: Listverse. Edited.]