Top 10 Weird Anomalies in Medicine

10.Congenital insensitivity to pain
Frequency: 100 documented cases in U.S.A. The frequency in other countries is unknown and it is usually undiagnosed.
Description: They are totally normal people in the sense of touch and in the sensibility of cool, heat, pressure and tickling. However, with a normal act wich would cause pain (as to nail a needle) it does not cause them any painful sensation. As a result of this, they usually die younger by traumatism and several injuries because of their lack of pain perception. They must be under supervision in early ages so that they can´t injure themselves.

9.Moebius Syndrome

Frequency: Around 80 documented cases in Spain, 200 in U.K… In Europe, around 300 kids appear with this syndrome each year.

Description:Because some face nerves are not developed, the people who are born with this syndrome lack face expression. They cannot smile, frown, move the eyes laterally or control the blinking. They are often found sleeping with the open eyes. They have great difficulties in sucking, swallowing, speaking and any activity in which are implied muscles of the face.

8.True Hermaphroditism

Frequency: Around 500 documented cases in the world. The real frequency in the population is not known.

Description: Hermaphrodites have both testicular and ovarian tissue. These two can be mixed, wich is called ovotestis or be separated elements, on the one hand a testicle and on the other an ovary. The external

genitals are ambiguous and have components of both sexes. Hermaphrodites can have femenine or masculine appearance.

7.Fibrodysplasia ossificans

Frequency: 200-300 documented cases around the world. This anomaly is often undiagnosed. It is estimated that one case appears in two million births.

Description: Any small injury to connective tissue (muscles, ligaments, and tendons) can result in the formation of hard bone around the damaged site. Children are born with a characteristic malformation of the great toes and begin to develop heterotopic (extra)bone formation during early childhood. Eventually, a second skeleton begins to form that severely restricts mobility.In many cases, injuries can cause joints to become permanently frozen in place. The growths cannot be removed with surgery because such removal causes the body to “repair” the area of surgery with more bone.

6.Ondine’s curse (Congenital Central Hypoventilation Syndrome)

Frequency: Between 200-300 well-known cases all around the world. For being cause of

sudden death it is thought that the well-known cases are only the tip of iceberg and that, in fact, 1

baby of each 200,000 which they are born could have this disease.

Description: In slightest forms of Ondine’s Curse, the patient will be able to continue living but, because of unrestful sleep by the lack of oxygen, during the day he will be sleepy, gotten tired easily. He will have headaches, increase of the red cell levels…

The most serious forms, in which to sleep means a certain death, usually appear from the birth, and most of newborns die without knowing the cause. Nevertheless, in those people in which the disease has gotten worse progressively and get to risk life whenever they sleep, it is usually treated with assisted ventilation during the night.

5.Proteus Syndrome

Frequency: At the moment, 200 documented cases all around the world. It seems that a case apperars by more of a million births.

Description: Exists a gre

at amount of cutaneous and subcutaneous malformations,

with hyperpigmentation, vascular malformations and irregular growth of bones. Partial gigantism of the limbs and the excessive growth of the fingers whereas some zones of the body grow less that what they wou

ld have. All of this causes an extreme disfigurement of the person who oftehn are socially. Josep Merrick, the fam

ous “Elephant Man”, suffered from this syndrome.

4.Progeria (Hutchinson-Gilford Syndrome)

Frequency: Around 100 documented cases. It seems that appears a

case of progeria by each 8 million births, although could be greater since it isn’t diagnosed many times.

Description: People with progeria age very quickly from the childhood. When they are newborns they have a totally n

ormal appearance but they are growing more and more slowly that the other children and develop a very characteristic face expression. The lose their hair, acquire wrinkles and suffer a severe damage on the arteries (atherosclerosis) that cause the death in the first years of adolescence.

3- True Human Tail (Vestigial Tail)

Frequency: Around 100 documented cases all around the world.

Description: It is observed the presence of a vestigial tail in the final zone of the sacral bone. This tail is compound of conective tissue, muscles, blood vessels, nerves, skin, verte

brae and cartilage.

2.Parasite Twin (Fetus in Fetus)

Frequency: Around 100 documented cases around the world.

Description: When the host fetus i

s able to survive the childbirth, this one can show a swelling up in the zone where the parasitic fetus locates itself. 80% of times, they are in the abdominal region, but also in skull, sacral region, scrotum… It can grow unnoticed, at the beginning. Later, the parasitic fetus will continue to grow at the same time the host does.

When making imaga tests, the organs are observed in places where the wouldn´t have to exist. Although tiny legs, arms, fingers, hair or any other element of the fetus can be seen if he has developed them. There aren´t two

equal cases of fetus in fetus, since parasitic fetus can locate themselves in very different zones in host fetus and, therefore, the growth and elements that has gotten to develop will be variable. There are very developed parasitic fetuses and others that only have a little number of organs.

1.Human Werewolf Syndrome (Congenital Hypertrichosis Lanuginosa)

Frequency: 40-50 documented cases around the world from its discovery. The natural incidence (without counting the cases in families) is considered in a case between 1 billion or one by 10 billion inhabitants.

Description: People who suffer from it are completely covered in lanugo hair except in the palms of their feet and hands. The maximum hair lenght that has been documented is about 25 centimeters.

Lanugo is the thin and off-white hair that appears in newborn in their shoulders and arms and that normally disappears after the first month from the birth. In those who suffer from this syndrome lanugo persists and can grow forever or dissapear over the years.

Even so, in spite of all those treatments, any mistake to remain slept without the indicated oxygen therapy, will mean the death.

Brain Electrodes Help Man Speak Again

NEW YORK-He was beaten and left for dead one night in a robbery while walking home in 1999. His skull was crushed and his brain severely damaged. The doctor said if he pulled through at all, he'd be a vegetable for the rest of his life.

For six years, the man could not speak or eat.

On occasion he showed signs of awareness, and he moved his eyes or a thumb to communicate. His arms were useless. He was fed through a tube.

But researchers chose him for an experimental attempt to rev up his brain by placing electrodes in it. And here's how his mother describes the change in her son, now 38:

"My son can now eat, speak, watch a movie without falling asleep," she said Wednesday while choking back tears during a telephone news conference. "He can drink from a cup. He can express pain. He can cry and he can laugh.

"The most important part is he can say, `Mommy' and `Pop.' He can say, `I love you, Mommy' ... I still cry every time I see my son, but it's tears of joy."

The progress of the patient, who remains unidentified at the family's request, is described more formally in a report in Thursday's issue of the journal Nature.

Experts called the results encouraging but cautioned that the experimental treatment must be tried in more patients before its value can be assessed. The researchers are already proceeding with a larger study.

Before the electrodes were implanted, the man was in what doctors call a "minimally conscious state." That means he showed only occasional awareness of himself and his environment. In a coma or vegetative state, by contrast, patients show no outward signs of awareness.

There are no reliable statistics on how many Americans are in a minimally conscious state, but one estimate suggests 112,000 to 280,000. Doctors may try medications to improve their condition but no drugs have been firmly established as helpful.

The experimental treatment is called deep brain stimulation. It has been used for years in treating Parkinson's disease, although in this case the electrodes were implanted in slightly different places. The goal of the stimulation was to provide "drive" to areas of the brain that are critical for specific skills like speaking.

Similar stories of partial recovery from brain damage occasionally grab headlines, whether the improvement came from treatment or just out of the blue.

Terry Wallis of Arkansas lingered in a minimally conscious state for almost 20 years before he suddenly regained some ability to speak and move in 2003. In 2005, a former firefighter in Buffalo, N.Y., turned from being barely aware and almost mute for nearly a decade into a virtual chatterbox for 14 hours. His doctor had been trying a cocktail of drugs.

The man described in the Nature paper, despite his improvements, remains severely disabled in a rehabilitation facility for brain injury on the East Coast. (To preserve the man's anonymity, the researchers would not identify the facility or even reveal which state it is in).

He can't walk. While he has regained the ability to chew and swallow, he must be spoon-fed. He can demonstrate the motion of brushing his teeth, for example, but he can't actually do it. That's because tendons in his arms contracted after years of immobility, said study lead author Dr. Nicholas Schiff of Weill Cornell Medical College in New York.

The man doesn't initiate conversation but can reply to others, generally with one to three words, said Dr. Joseph Giacino, a co-lead author of the Nature study.

Several weeks ago, he recited the first half of the Pledge of Allegiance without assistance, said Giacino, of the JFK Johnson Rehabilitation Institute in Edison, N.J.

The man's electrodes are left on for 12 hours a day. He has continued to improve since the experiment formally ended in February 2006, the doctors said.

After the research was over, doctors started giving him the drug amantadine, which has shown some potential for treating people in a minimally conscious state. It's not clear whether amantadine can boost the effects of deep brain stimulation or vice versa, Giacino said.

Dr. James Bernat, a professor of neurology at Dartmouth Medical School who didn't participate in the new research, called the Nature report exciting and important. Further study is needed to sort out how many patients would respond and how to identify the minimally conscious patients with the best chance of being helped, he said.

He noted that a similar treatment did not help Terri Schiavo, the Florida woman in a vegetative state whose care triggered national controversy before her death in 2005. That's the typical outcome for electrical brain stimulation in vegetative states, he said.

Dr. Ross Zafonte of the University of Pittsburgh, who also was familiar with the study results, agreed that "we need to know more." He said the approach is "very interesting and holds great promise."

from www.nature.com