Progeria in newborns causes symptoms and treatment

Have you ever noticed that your newborn seems to show signs of aging unusually fast? Or that their skin is extremely thin and their bones are fragile? This could be a sign of progeria in newborns, also known as premature aging. This condition is very rare and significantly affects a child’s growth. However, early detection and accurate diagnosis can help parents monitor the condition, manage the symptoms, and improve the child’s quality of life.In this article by Dalily Medical, we’ll discuss the causes of progeria, its symptoms, stages, diagnostic methods, and available treatments for children, as well as provide practical tips for parents to care for their child and support their healthy growth and development.

1. Is progeria genetic?
Most cases of progeria occur due to a spontaneous genetic mutation and are not usually inherited from the parents. However, in rare cases, it can be hereditary.

2. Is progeria life-threatening?
The condition itself is not contagious, but it can affect the heart, arteries, and bones, which poses serious health risks over time.

3. When do the symptoms appear?
Symptoms usually appear during the first year of life, such as:

Abnormal hair growth or hair loss
Small jaw size
Bone deformities
Loss of subcutaneous fat

4. Does progeria affect intelligence?
No, children with progeria are mentally healthy. The disease only affects the body, external appearance, and internal organs.

5. Is there a cure for progeria?
Currently, there is no cure that can stop the disease completely, but there are:

Medications to relieve symptoms
Specialized medical care
Regular monitoring to manage complications

6. Can surgery help?
Surgery can be used to treat complications related to the heart, bones, or arteries, but it does not cure the disease itself.

7. Can the child live a normal life?
With proper medical care and psychological support, children can live relatively normal lives, but continuous monitoring of heart and bone complications is essential.

8. Is progeria contagious?
No, progeria is not contagious at all, and it poses no risk to other children.

How can parents help a child with progeria?

Regular check-ups with a specialist to monitor the child’s growth and health
Psychological support to prevent embarrassment or fear about their appearance
Adherence to medical treatments and prevention of heart and bone complications

Inheritance of progeria
Most cases occur due to a spontaneous (de novo) mutation in the LMNA gene, which usually happens in a sperm cell before conception. This means the disease is generally not inherited from the parents.

Is progeria dominant or recessive?
Progeria is an autosomal dominant genetic disorder, meaning that one copy of the mutated gene is enough to cause the condition.

Life expectancy for children with progeria
Progeria is often fatal, with an average life expectancy of around 14.5 years. Some children may die as early as 6 years old, while others may reach their early twenties. Death usually occurs due to arteriosclerosis complications, mostly heart failure or heart attacks.

Treatment with Lonafarnib
The drug Lonafarnib has shown promising results, extending the lifespan of patients by about two and a half years.

Will my children get progeria if one of them is affected?

Progeria is extremely rare and usually occurs due to a new genetic mutation, so it is not typically inherited within families.

The probability of having a child with progeria is about 1 in 4 million.
After having one affected child, the risk increases slightly to 2–3% due to a condition called genetic mosaicism, where some cells of a parent carry the mutation without the parent being affected.
Genetic testing is recommended to determine the likelihood of another child being affected.

Can progeria be prevented?

Unfortunately, progeria cannot be prevented because it is caused by a random new genetic mutation.

The condition is extremely rare and usually not inherited, making prediction difficult.
Genetic testing of the parents after the birth of an affected child can help identify potential risks for future children.

Can a child with progeria attend school?

Yes, many children with progeria attend school, often with some accommodations. A comprehensive support plan should include:

Continuous communication with school administration and teachers.
Collaboration with nurses and therapists to meet the child’s needs.
Emergency plans for breathing difficulties or chest pain.

The goal is to enable the child to participate fully while feeling safe and comfortable.

What is progeria in children?

Progeria is a very rare genetic disorder that causes rapid aging in children. Children are usually healthy at birth, but signs of aging typically appear during the first year or two of life.

Key signs of progeria:

Hair loss and early baldness.
Prominent eyes.
Wrinkled skin resembling that of elderly individuals.
Thin, beaked nose and small face disproportionate to head size.
Loss of subcutaneous fat, making the child appear extremely thin.
Slow growth and difficulty gaining weight.
Normal intelligence; the disorder does not affect cognitive abilities.

Origin of the name:

The word “geras” in Greek means “old age.”
The classic type is called Hutchinson-Gilford Progeria Syndrome (HGPS), first described in the late 19th century by Dr. Jonathan Hutchinson and Dr. Hastings Gilford.

Severity of the disease:

Progeria is often fatal, with an average life expectancy of 14.5 years.
Some cases may survive into their early twenties.
Death usually occurs due to early arteriosclerosis, the same heart disease seen in older adults, but affecting children very early.
Plaque buildup in artery walls reduces flexibility, which can lead to heart attack or stroke.

Potential treatment:

The drug Lonafarnib has shown effectiveness in slowing disease progression and improving quality of life but is not a cure.

Causes of progeria in children

Progeria, also known as Hutchinson–Gilford Progeria Syndrome (HGPS), is caused by:

Genetic mutation in the LMNA gene
- This gene produces Lamin A, a protein that maintains nuclear stability.
- Mutations produce an abnormal protein called Progerin.
- Accumulation of Progerin weakens and kills cells faster, leading to premature aging signs.
Random mutation, not inherited
- Most cases are caused by spontaneous genetic errors during egg or sperm formation.
- The disorder rarely recurs in the same family.
Non-genetic factors
- Nutrition, environment, or lifestyle are not causes of progeria.
- The primary cause is always genetic.

Stages of progeria in children

At birth
- Most infants appear normal.
- Occasionally, a doctor may notice low birth weight or small size.
Infancy (0–12 months)
- Slight hair loss or very fine hair.
- Thin, sensitive skin.
- Slower physical growth compared to other infants.
Early childhood (1–3 years)
- Slow weight and height gain.
- Early facial wrinkles.
- Gradual hair loss, including eyelashes and eyebrows.
- Dental issues, such as delayed tooth eruption or small jaw.
Middle childhood (3–6 years)
- Aging features become clearer: wrinkles, thin dry skin.
- Fragile bones and higher fracture risk.
- Reduced muscle mass and slightly limited mobility.
School age (6–12 years)
- Hair often completely absent on head and body.
- Continued slow growth and small stature.
- Early heart and vascular issues.
- Psychological and social support is necessary due to appearance.
Early adolescence (12–15 years)
- Rapid progression of aging signs on skin and bones.
- Arteriosclerosis and heart problems may become apparent.
- Difficulty moving or performing normal activities.
Late adolescence and beyond
- Most children live until mid-teens or early twenties.
- Cardiovascular complications are the most common cause of death.

Symptoms of progeria in children

Progeria symptoms appear rapidly compared to normal children, usually starting in the first two years, and include:

Growth failure and short stature
Wrinkled, thin skin
Hair loss (baldness)
Stiff joints and limited mobility
Hard skin resembling scleroderma
Loss of subcutaneous fat
Facial and cranial abnormalities:
- Large soft spot on the head (fontanelle)
- Narrow face relative to head size
- Beaked nose
- Delayed teeth
- Small or underdeveloped jaw

Later complications as the condition progresses:

Hip dislocation
Cataracts
Arthritis
Artery plaque buildup (early arteriosclerosis)

Types of Progeria in Children

Progeria can appear in different forms depending on the affected genes and how symptoms manifest:

Hutchinson–Gilford Progeria Syndrome (HGPS)
- The most common type.
- Symptoms usually begin in the first year.
- Main signs: slow growth, thin or missing hair, early skin aging, aged-looking face, and early heart problems.
Atypical or Late-Onset Childhood Progeria
- Milder symptoms or onset after the first year.
- Slower growth, but some body functions may remain normal for longer.
- Differences in hair or skin appearance compared to HGPS.
Werner Syndrome (Adult-Onset Progeria)
- Usually appears in adolescence or young adulthood.
- Often described as a type of progeria due to early aging signs.
- Affects skin, hair, and bones, and increases the risk of heart disease and diabetes.
Rare Acquired Progeroid Syndromes
- Extremely rare cases appearing after birth due to other genetic mutations or rare conditions.
- Include growth problems, muscle weakness, and limited signs of early aging.

Harmful Effects of Progeria in Children

Progeria gradually affects the child’s body due to accelerated aging, including:

1. Heart and vascular problems

Early arteriosclerosis increases the risk of heart attacks or strokes.
Blood pressure may become abnormal with rapid aging.

2. Bone and joint weakness

Osteoporosis makes children more prone to fractures.
Joint problems and limited mobility may occur.

3. Skin and hair issues

Skin becomes thin and dry quickly.
Partial or complete hair loss, including scalp, eyelashes, and eyebrows.
Early facial wrinkles.

4. Slow growth and small stature

Children are usually shorter and lighter than peers.
Weak muscles and reduced muscle mass.

5. Dental and jaw problems

Delayed or early tooth loss.
Small jaw and issues with primary and permanent teeth.

6. Additional health issues

Difficulty regulating body temperature.
Fat and cholesterol imbalances, increasing heart disease risk.
Occasional liver or kidney problems due to accelerated cellular aging.

7. Psychological and social impact

Children may feel isolated or different from peers due to appearance.
Continuous psychological support is important to boost self-confidence.

Diagnosing Progeria in Children

Accurate diagnosis is crucial as symptoms can resemble other growth or skin conditions. Key steps include:

1. Clinical examination

Evaluate the child’s features: early wrinkles, sparse or absent hair, thin sensitive skin.
Monitor growth: height and weight compared to peers.
Check for bone, heart, and muscle problems.

2. Medical and family history

Ask about the onset of symptoms.
Review any similar cases in the family (most cases are spontaneous).
Note any health problems or medications.

3. Laboratory tests

Blood and hormone tests to rule out other growth disorders.
Assess heart, liver, and kidney function as needed.

4. Genetic testing

Detect mutations in the LMNA gene, responsible for most progeria cases.
Helps confirm diagnosis and distinguish from other rare early-aging disorders.

5. Additional tests

Echocardiogram to monitor arterial stiffness or heart valve issues.
X-rays for bone density and deformities.
Dental and jaw assessment if tooth growth problems exist.

Care and Living with Progeria

1. School attendance

Children with progeria usually have normal intelligence and social skills.
Interaction with peers is important, with precautions during physical activities.
Many attend regular schools with accommodations to participate fully.
Schools should ideally have emergency devices, such as defibrillators.
Occupational therapy can improve hand dexterity for writing and daily tasks; using short pens with cushioned grips may help.

2. Nutrition

Children often have difficulty gaining weight. Recommendations include:
- Frequent meals and high-calorie foods.
- Nutritional supplements and high-calorie liquids.
- Healthy options like olive oil, melted cheese, peanut butter, avocado, full-fat milkshakes, and juices.
- Adequate vitamin D and calcium to support bone health.
- Maintain good hydration, especially during travel, to ensure proper blood flow to the brain and heart.

3. Mobility

Some children may need walkers or assistive devices to maintain independence.
Monitor any sudden loss of walking ability or changes in range of motion.

4. Handling attention and questions from others

It’s normal to face stares or questions about the child’s condition.
Parents can decide the appropriate time to discuss the condition with the child.
Educating the community about progeria can help build a supportive network of friends, neighbors, and relatives.

Treatment of Progeria in Children

Currently, there is no cure for progeria, but medical treatments and specialized care can improve the child’s quality of life and reduce complications:

1. Medications

Farnesyltransferase inhibitors (FTIs): Drugs like Lonafarnib are the latest approved treatment. They improve cellular function, reduce arterial stiffness, and extend the lifespan of affected children.
Heart and blood pressure medications: To lower the risk of strokes and heart attacks.
Low-dose aspirin: Provides protection against blood clots.
Statins: Reduce cholesterol and protect arteries.

2. Surgery and medical interventions

Vascular surgery (bypass): To improve blood flow in case of artery blockage.
Cardiac surgery: To treat heart valve problems if they occur.

3. Regular medical follow-up

Periodic monitoring of the heart and blood vessels.
Routine checks for bones, teeth, and growth.
Physical therapy: To improve joint mobility and reduce muscle stiffness.

4. Home care and support

Healthy nutrition: balanced diet rich in proteins and vitamins.
Adequate hydration to prevent dehydration.
Protect the child from extreme heat or cold, as their body is sensitive.
Light physical activities to maintain muscle flexibility.

5. Psychological and social support

Children need significant psychological support to adapt to physical changes.
Encourage participation in community activities, school, and play.
Provide parent support groups to help cope with daily challenges.

Surgery in Progeria for Children

Surgery does not cure progeria itself, but it is used in specific cases to correct complications, especially those related to the heart, blood vessels, and bones.

1. Vascular Surgery

For children with artery blockage or stiffening caused by progeria.
Goal: improve blood flow and reduce the risk of clots and heart attacks.
May involve stent placement or artery bypass procedures.

2. Cardiac Surgery

To treat heart valve problems or cardiovascular complications.
Performed based on careful medical evaluation to minimize risk.

3. Orthopedic Surgery

For children with bone deformities or weakness caused by progeria.
Surgery may help correct bones, improve mobility, and reduce pain.

⚠️ Important notes

Surgery treats complications, not the disease itself.
Surgical decisions are made after thorough evaluation by a specialized medical team.
Post-surgery, children require close follow-up to prevent new complications.