What Is Benjamin Button Disease (Progeria)?

“The Curious Case of Benjamin Button”, many of us came across this 2008 Academy Award fantasy romantic drama that tells a touching story about a child named Benjamin Button, who suffers from a rare ageing ailment that makes him age backwards.

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As others, including this his lover grows older, he grows younger. The rare condition used in the movie is medically termed Progeria syndrome.

In 1886, Progeria (Benjamin Button disease) was first described by Jonathan Hutchinson. In 1897, it was also described independently by Hastings Gilford.

This rare condition (Benjamin button disease) was decades later named Hutchinson-Gilford Progeria syndrome. Medical researchers are interested in the condition, partly because it might reveal clues about the normal process of aging.

Progeria in Greek means prematurely old, unlike the movie where Benjamin grows younger than his mates. Progeria is the term used for a group of disorders that cause rapid aging in children.

That is, the children look older than their age mate. Children with this rare condition do not live more than 13 years, according to the Progeria Research Foundation; it affects 1 in 4 million children which are born with it worldwide.

Progeria affects children regardless of their gender or ethnicity; an estimated number of 350 to 400 kids are living with this syndrome at any given time in the world.

A single mistake in a certain gene causes it to make an abnormal protein, when cells use this protein, called progerin, they break down more easily and this leads kids with Benjamin Button disease (Progeria) to age quickly.

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Types of Benjamin Button Disease

Children with Benjamin Button disease appear healthy, but by the age of 2 years, they look as if they have become old too fast. There are different types of Progeria, but the most common type of this syndrome is Hutchinson-Gilford Progeria syndrome (HGPS).

HGPS is a rare and fatal genetic disorder caused by a mutation in the lamin A (LMNA) gene and this mutation result in severe hardening of the arteries from a young age. Infants born with this type of Benjamin button’s condition live on average for 14years, because of the likelihood of developing atherosclerosis.

Neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch syndrome (WRS) is another type of Benjamin Button disease that is characterized by aged appearance at birth, growth delays before and after birth (Prenatal and postnatal growth retardation) and subcutaneous lipoatrophy deficiency or absence of the layer of fat under the skin). It appears in children while they are still in utero.

The third type of Benjamin Button disease is the adult version, which is called the Werner syndrome. Its symptoms normally occur in teenagers. Persons with this type of Benjamin’s syndrome may live into their 50s and even 60s.

Causes of Benjamin’s Button Disease

Benjamin Button disease is a genetic condition. Most children with Progeria exhibit mutation on the gene that encodes lamin A (LMNA gene). Lamin A protein (progerin) is a protein that holds the nucleus of a cell together and prevents it from collapsing.

The defective protein is said to make the nucleus unstable; this instability makes cells more likely to die, early leading to the symptoms of Progeria.

Due to the etiology of this condition been a rare genetic change, one parent may have the mutation even without showing signs of Progeria. There is usually no family history in most cases, but if there is already one child in the family with the Benjamin Button condition then there is a 2 to 3% chance that another sibling will have it.

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Progerin may also play a role in normal human aging, since its production is activated in typical senescent cells.

Symptoms of Benjamin’s Button Disease

A child with Benjamin Button disease is likely to look healthy and normal at early birth stage but around 10 to 24 months (the first birthday), the child starts exhibiting symptoms as features of accelerated aging begins to appear.

Signs and symptoms of Benjamin Button disease include:

  • Rapid Loss of body fat and muscle
  • Limited growth and short stature
  • Early signs of skin wrinkling and thin skin with spots.
  • Loss of hair including eyebrows and lashes.
  • Visible, greenish veins
  • Stroke
  • Joint stiffness
  • Narrow wrinkled and shrunken face.
  • Macrocephaly (a head in larger proportion than the body)
  • Generalized atherosclerosis, leading to cardiovascular and heart disease.
  • A high-pitched voice
  • Large eyes, which cannot be closed.
  • A thin nose with a “beaked” tip
  • A small jawbone
  • Slow and abnormal tooth development
  • Limited range of motion and possible hip dislocation
  • The connective tissue in the skin tends to become tough and hardened.

Blood tests also show signs of insulin resistance, but cholesterol and triglyceride levels should be normal. It has been observed that children who suffer from Benjamin Button disease condition are not intellectually affected as the disease does not affect brain functions and development; motor skills seem to be intact, but this does not rule out the possible risk of infection.  

Diagnosis of Benjamin Button Disease

Genetic testing can show and confirm whether a parent has the mutation or not. The symptoms on the other hand are very noticeable; a pediatrician is unlikely to miss them during a routine checkup. If symptoms of Benjamin button disease (progeria) are noticed in children or wards, they should quickly taken to a pediatrician.

The doctor will carry out a physical examination, test hearing and vision, blood pressure and pulse measurement and compare the child or ward’s height and weight with other kids of the same age.

If the routine check raises alarm, the pediatrician may refer to a specialist of medical genetics who can confirm the diagnosis with a blood test. Decades ago, before this blood tests were available, doctors could only diagnose Benjamin Button disease with X-rays and physical examinations.      

Treatment of Benjamin Button Disease

 Benjamin button disease has no known cure yet, but clinical trials using FTIs (farnesyltransferase inhibitors) – a cancer medication is still ongoing to checkmate the progression rate of the disease.

Treatment of Benjamin Button disease (Progeria) entails management and treatment of symptoms to delay and ease some difficulties:

  • Physical therapy can help the patient keep moving if their joints are stiff.
  • Eating healthily and getting regular exercise are important.
  • Heart health is critical for people with the condition, so clinicians may prescribe statins, nitroglycerin for angina and routine therapy for congestive heart failure.
  • Self-care tips may include eating different food when the lipid profile of the body begins to change and eating small meals regularly to maximize calorie intake.
  • Some patients may require coronary bypass surgery or angioplasty to slow the progression of heart disease.
  • Use of broad-spectrum sunscreens with an SPF of at least 15 is constantly needed by patient of Progeria, reapplying every 2hours or more if the patient is sweating or swimming. Important for protecting the skin and padding in shoes can help minimize discomfort caused by a lack of fat padding on the body.

Conclusion

Benjamin button disease is a rare genetic condition in children characterized by early year aging, it has three major types and the most common begin two years after birth; it is not inherited.

In patients with Benjamin Button disease, genetic factors increase the risk for developing progressive heart disease from an early age. They also commonly experience cardiovascular disorders like hypertension, angina, stroke, enlarged heart size and heart failure (conditions linked with aging).

The brain is barely affected, and patient still reserve their motor and cognitive functions. There is no particular treatment and to ensure survival is managing of symptoms.

Sources;

Benjamin Button Disease (Progeria)

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