Bizarre yet amazing !!!!!

 Have you ever wondered to be in a place where you are superior! Or a place where there is no other person equivalent to you because of the Superpowers you have?

Well, there are certain medical conditions which present with these manifestations and are thus very interesting to study, yet bizarre and rare that few cases exist.


Werner's Syndrome -  Named after the German Scientist - Otto Werner. He observed 4 children with premature aging and thus noted this down in 1904. It is one of the rare diseases with global rate of 1 in 100,000 live births. Although this is common in countries like Japan with expected incidence rate of 1 in 20,000 - 45,000. The average life expectancy can be estimated up to 45-50 years and death may be occurring in average age of 50-54 years of life. This means that the maximum a person can live is up to 50 years and above. Since aging is accelerated, the main cause of death is either cardiovascular compromise or any type of malignancy (cancer).

People present with WRN gene defect and have the following clinical features - Growth retardation, premature greying of hair, hair loss (Alopecia), wrinkling of skin, Skin shrinkage and atrophy (Sometimes wasting is also seen), Arterial obstruction by fat or calcium deposition making them hard, Osteoporosis, Type 2 Diabetes, etc etc...

This image shows the progression of the disease.

Hutchinson - Gilford Progeria -  Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking. 



This image shows the Progression of the disease.

Now the basic question arises, that how will we differentiate between the two above diseases. Werner's and H-G Progeria both cause aging at a rapid rate.

The answer is very simple. The only difference here is the Time of Onset of the disease.

Werner's Is a disease which starts at the age of adolescence, whereas H-G progeria from the early childhood. But there are certain cases which show that Werner's syndrome can precipitate as early as the age of 6 years. 

Cotard Syndrome -  It is a psychological disorder where, the person thinks that he is dead! It is a delusional disorder where the person perceives himself as dead, and non-existent, in a state of putrefaction or have no internal organs or sometimes bleeding internally with cravings for flesh. It is somewhat closer to a Zombie that we see on the screen or on games. Named after the neurologist Jules Cotard in 1880 as "The delirium of negation" or Le Delire des negations. 

Delusions of negation are the central symptom in Cotard's syndrome. The patient usually denies their own existence, the existence of a certain body part, or the existence of a portion of their body. Cotard's syndrome exists in three stages: (i) Germination stage: symptoms of psychotic depression and of hypochondria appear; (ii) Blooming stage: full development of the syndrome and delusions of negation; and (iii) Chronic stage: continued severe delusions along with chronic psychiatric depression. 

Alice in Wonderland Syndrome (AWS)

A rare condition that causes temporary episodes of distorted perception and disorientation. You may feel larger or smaller than you actually are. You may also find that the room you’re in — or the surrounding furniture — seems to shift and feel further away or closer than it really is. AWS is also known as Todd’s syndrome. That’s because it was first identified in the 1950s by Dr. John Todd, a British psychiatrist. He noted that the symptoms and recorded anecdotes of this syndrome closely resembled episodes that the character Alice Liddell experienced in Lewis Carroll’s novel “Alice’s Adventures in Wonderland.”

 It is typically presented as - Time distortion, Migraine, Loss of limb control, Sound distortion, etc.

This might be caused by Stress, Anxiety, Hallucinogenic drugs, Stroke, Brain tumor, etc. The exact cause is still unknown and is still under research. 


Fibrodysplasia Ossificans Progressiva (FOP) -  Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs. 

 Believed to occur in approximately 1 in 2 million people worldwide. Several hundred cases have been reported.

 Any trauma to the muscles of an individual with Fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification in the injured area. 

 Other names for the disease are - Myositis ossificans, Progressive Ossifying Myositis.


A specimen of FOP, showing ossified musculature.

Auto-Brewery Syndrome -  Auto brewery syndrome is also known as gut fermentation syndrome and endogenous ethanol fermentation. It’s sometimes called “drunkenness disease.” This rare condition makes you intoxicated — drunk — without drinking alcohol.

Auto brewery syndrome can make you:

  • drunk without drinking any alcohol
  • very drunk after only drinking a small amount of alcohol (such as two beers)

You can’t be born with this rare syndrome. However, you may be born with or get another condition that triggers auto brewery syndrome. For example, in adults, too much yeast in the gut may be caused by Crohn’s disease. This can set off auto brewery syndrome.

 

 


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