Medical Mysteries: Conditions and cases that have baffled doctors

I borrowed from MSN. Call center agents, check on Fatal Familial Insomnia below. It says, just a single night of missed sleep, you can expect a day of blurred vision, difficulty concentrating and gastrointestinal distress. Just read on.

 I will continue posting health related articles and success tips. Note that health and success go hand in hand. Succes is nothing if a person is sickly. We can do it!

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By Rich Maloof for MSN Health & Fitness

© KUSA-TV/MSNBC

The human body is a fantastically intricate system. Even with some of the finest minds on the planet exploring the depths of its complexity, our anatomy still holds many secrets. We are reminded of how little we really understand when strange abnormalities arise. Here is a brief look at nine remarkable—and tragic—mysteries that have stymied modern medicine.

Phineas Gage

A View Into the Brain

© Courtesy of Harvard medical School/AP

In September 1848, railroad foreman Phineas Gage was packing sticks of dynamite into a rock with a heavy tamping rod. The dynamite exploded, sending the 3-foot 7-inch iron rod through his left cheekbone—and out the top of his head. Incredibly, his crewmen found him fully conscious and coherent, eager to get on his feet. He was rushed to Dr. John Marlow, who inserted fingers through Gage’s head and face, touching them together, before patching up the scalp and cheek flesh of his miracle patient. Gage recovered completely.

Doctors marveled that he survived at all. But the great contribution to science came with the realization that Gage later became a more violent and angry man after the front part of his brain had been traumatized. Never before had personality been identified with a specific part of the brain. The discovery paved the way for future understanding of brain functions.

Gage ran through our minds again in 2005 when construction worker Patrick Lawler fell down a staircase carrying a nail gun. Talk show audiences were amazed to see a fully recovered Lawler describing X-ray images of a 4-inch nail standing upright above his jaw. Lawler had used Advil to put off a “toothache” for six days before he realized there was a nail in his face.

Fibrodysplasia Ossificans Progressiva

The Second Skeleton

© Najlah Feanny/Corbis

Though FOP is extremely rare, cases have been documented as far back as the 17th century. More than 300 years later, physicians are still at a loss to explain what causes soft tissue in FOP patients to turn to bone.

The earliest sign of FOP is malformed toes, such as the toes of a little girl shown here. But the real damage is done in the coming years as muscles, tendons and ligaments in the neck, back and shoulder ossify. Connective tissue in the knees, hip and elbow can also turn to bone, locking limbs permanently in position. Attempts to surgically remove the new bones results in even more bone formation.

Unfortunately, it gets worse. Although people with FOP can live into their 70s, the disease is progressive, as the “progressiva” part of the name indicates. More FOP bones grow over time, often in response to injury. With an “extra skeleton” growing in the body, the FOP patient finds it ever more difficult to move.

Synesthesia

Sensorial Crossroads

To be expressive with language, we often use metaphors that borrow from the senses: Earth tones are “warm,” and a brass section sounds “bright.” For people with synesthesia, the crossing of senses is not metaphorical but literal. Synesthetics may hear colors, see sound or smell numbers. Dr. Richard Cytowic, author of The Man Who Tasted Shapes, undertook his study after a friend cooking dinner exclaimed that “there aren’t enough points on the chicken.”

Synesthesia is not considered to be a disease (though it has not been well studied, either) and tends to affect people who are bright and colorful—er, that is, people who are intelligent and creative.

Congenital Erythropoietic Porphyria

Hypersensitivity to Light

© Jim Bryant/AP

Fewer than 200 cases of congenital erythropoietic porphyria have ever been documented, and not just because physicians can’t pronounce the name. Due to a gene mutation, the skin becomes extremely sensitive to sunlight. Areas of exposed skin can become blistered and infected. Sunlight exposure can also lead to scarring, changes in skin pigmentation and increased hair growth. Such symptoms have unfairly linked people suffering from the condition with the lore of vampires and werewolves. On overcast or very cold winter days, the symptoms of congenital erythropoietic porphyria (also called erythropoietic protoporphyria) are sometimes attenuated, allowing some safe exposure to indirect sunlight.

Lithopedion

The Stone Baby

© Simon Kwong/Reuters

It sounds horribly tragic, but the rare medical phenomenon of the stone baby results from a process that protects a woman after a failed pregnancy.

When a fertilized egg attaches anywhere outside the uterus (an abdominal or ectopic pregnancy), the fetus may begin to grow but cannot survive. Under very rare conditions the miscarried fetus is neither expelled nor reabsorbed. Instead, it calcifies—effectively turning to “stone”—which protects the mother from infection.

Lithopedions have been mistaken for benign tumors or ignored by mothers who may not even have known they’d been pregnant. In one case, surgeons found a stone baby in a 76-year-old woman who had apparently been carrying it for 50 years.

Trimethylaminuria
Fish Odor Syndrome (a.k.a. Stale Fish Syndrome or TMAU)

If you think the odor of rotting fish is offensive down on the docks, imagine it on your breath. The same chemical that causes stale fish to smell bad, trimethylamine, is naturally derived from our diet, and the body’s normal metabolism is supposed to break the chemical down. When it does not, as is the case with TMAU sufferers, the buildup is eventually excreted through urine, saliva and perspiration. Cruelly, the chronic condition tends to worsen around puberty. While there are no inherent physical dangers associated with TMAU, there’s no cure and the social and psychological toll on adolescents and adults can be devastating.

Morgellons

A Real Case of Creepy Crawlies?

© Rich Pedroncelli/AP

The Centers for Disease Control and Prevention have yet to recognize Morgellons as a legitimate disease, but there is no doubt for the 7,500 people nationwide who are plagued by a crawling sensation on their skin and intensely itchy lesions. The description of Morgellons is not entirely unlike scabies or lice, both of which are parasitic conditions. But the real head-scratcher is the appearance of mysterious fibers that seem to grow under the skin. Skeptics, noting that most Morgellons sufferers also experience cognitive or behavioral problems, have suggested the condition is psychological. But they’re at a loss to explain the documented finding of these strange fibers (shown here at the tip of a pen) that apparently bear no relation to cotton, wool or synthetic fibers. The Morgellons Research Foundation continues to urge the CDC to assign an investigative task force.

Fatal Familial Insomnia

When Can’t Sleep Kills

Lose just a single night’s sleep and you can expect a day of blurred vision, difficulty concentrating and gastrointestinal distress. In 1959, disc jockey Peter Tripp deprived himself of sleep for more than eight days as part of a publicity stunt, and he became paranoid, incoherent and believed he saw kittens and bunnies at his feet.

For the world’s handful of families with this type of insomnia, the symptoms are progressively and exponentially worse. Their continued lack of sleep leads first to panic attacks, then to hallucinations, then to full-on dementia. Eventually, they die from lack of sleep.

In the 28 families identified, a dominant gene leaves offspring with a 50 percent chance of acquiring the disease. FFI was first diagnosed by an Italian doctor in 1979, and it was nearly 20 years before scientists understood that it was caused by a mutated protein. The mutation leads to a buildup of plaque in the part of the brain that regulates sleep.

5-Alpha Reductase Deficiency

Nature’s Sex Change

The Intersex Society of America estimates that one of every 2,000 American children are born with an intersex disorder, so defined when one’s sexual anatomy does not fall neatly into the male or female category. 5-ARD is one such condition, and is due to an in utero complication with how a male fetus’ system uses testosterone. As a result, the newborn baby has male chromosomes but tends either to have “ambiguous genitalia” (male pseudohermaphroditism) or the genitalia appear to be that of a baby girl. During puberty, however, testosterone rages through the body and the male characteristics emerge: The voice drops, shoulders broaden and an Adam’s apple may start to develop. What appeared to be labia turn out be testicles, and what appeared to be a clitoris turns out to be a penis.

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10 Comments

  1. Md Khaja Hassnuddin said,

    February 3, 2012 at 3:43 pm

    Yes, it can happen. I have shocked when I saw the news in news paper that a lady Ananthamma (70) who reside in Mahbubnagar district, in Andhra Pradesh, India has got surgery due to huge stomock pain. In this surgery doctors found a stoned baby inside her womb. they have done surgery to that lady and removed stoned baby. The stoned baby is 14 inches long and wight is 2 kgs.

    40 years earlier Ananthamma got pregnancy and lost it. After that incident she had pregnancy again and given birth to a healthy child.

    After reading that new in news paper i started searching for information regarding this incident then I found this website.

    Doctors who have done surgery to that old women told that it may happen 300 times in the time period of 400 years.

    Amazing no!!!!

    You can get this news from Enadu Daily Friday, February 3, 2012.

  2. jay schwartz said,

    February 2, 2010 at 11:43 am

    Doctors give up too easily. They do not want to look for the non-obvious

  3. jay schwartz said,

    February 2, 2010 at 11:42 am

    We need to locate a doctor who will not stop until he finds out what is going on with Nancy. We live in Phoenix, AZ.

  4. jay schwartz said,

    February 2, 2010 at 11:39 am

    My wife has been suffering with terrible abdominal pains, diarherra all the time, no strength at all, etc. All the tests and MRI’s etc, show nothing that can be seen. Blood tests are normal. Yet, she continues to suffer terribly. Hardly goes out at all. WE need a doctor that will look for the non-obvious signs of whatever is causing her problems. Doctors like to put it as IBS and Fibromyalgia and that’s it. All of this has occured since she had her Gall bladder out about a year ago.Does anybody know of a physcian who will not stop until he gets his answer! Thank you, Jay

    • Lisa said,

      April 2, 2010 at 4:52 am

      Has she tried an elimination diet? It sounds like she may have a food intolerance. The most common offenders are milk, eggs, wheat, gluten and corn. Might be a place to start.

    • Ren ripples said,

      March 30, 2012 at 11:00 am

      worst thing you can do is remove the gall bladder, just like removing the tonsils and pancreas they are there for a reason, my mother had her gall bladder removed, she is constantly in the bathroom even at her work, constant pain, the gall bladder serves a purpose, now what your wife can do, is detox her body and diet, fresh raw food, her diet will be bland, but she will feel much better, no spices, no mixed foods, plain old water, serving of vegetables, serving of fruits, nuts no grains or dairy, and for protein fish (least hard meat to digest), her stools will be the consistancy of diarherra, since the gall bladder is no longer there to process her stool. squatting position is best when you have to defecate don’t have a toilet that low, get a bucket , sitting on the toilet has been proven to lead to ibs, constipation and a host of other ill health. like diseased gall bladders. and prostate cancer.

  5. November 18, 2009 at 12:12 am

    […] SciencePunk » Cinnamon and honey can cure anything!Medical Mysteries: Conditions and cases that have baffled doctors « Felicissima […]

  6. Paul R Wilson said,

    February 25, 2009 at 11:21 am

    I’m building a pic file of sideshow marvels and monsters: acardia, anencephalia, conjoined twins, cyclops, you name it ! Anencephalics CAN be prevented by folic acid during pregnancy, and keeping cattle away from false hellebore may avert the birth of an inviable cyclops.

  7. morgellons said,

    August 15, 2008 at 9:52 am

    Morgellons is a skin disorder that was first described more than 300 years ago. The disease is characterized by fiber-like strands extruding from the skin in conjunction with various dermatologic and neuropsychiatric symptoms. For support: http://www.morgellons-disease-research.com/

  8. Melina said,

    December 21, 2007 at 1:45 am

    very interesting. i’m adding in RSS Reader


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