Phineas Gage
A View Into the
Brain
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
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
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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
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)
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?
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
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 topanic 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.
Copy-pasted: Medical Mysteries: …
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