Myelodysplastic Syndromes in Children Causes and Treatment

Myelodysplastic Syndromes (MDS) in children are rare disorders that affect the bone marrow, which is responsible for producing blood cells. This condition causes abnormal development of red blood cells, white blood cells, and platelets, leading to symptoms such as anemia, frequent bleeding, and weakened immunity. Early diagnosis is crucial to prevent the disease from progressing into more serious complications like leukemia. In this Delile Medical guide, we’ll explore the main causes of pediatric MDS, the key symptoms parents should watch for, diagnostic methods, and the latest treatment options — from medications and nutritional support to bone marrow transplantation.

❓ What are Myelodysplastic Syndromes (MDS) in Children?

They are a group of bone marrow disorders that affect the production of blood cells (red cells, white cells, and platelets). The bone marrow produces immature or dysfunctional cells, which leads to anemia, frequent bleeding, and weakened immunity.

❓ Is MDS common in children?

No, pediatric MDS is very rare compared to adults.

❓ At what age can MDS appear in children?

It can appear at any age, but it is more common in late childhood and adolescence.

❓ Is MDS always genetic?

Not always. In some cases, it is linked to genetic syndromes such as Fanconi anemia or Down syndrome, but it can also develop as an acquired condition or without a known cause.

❓ Can MDS go away on its own?

No, MDS does not go away by itself. It requires medical follow-up and treatment. In advanced cases, bone marrow transplantation may be the best option.

❓ What is the difference between MDS and aplastic anemia?

MDS: The bone marrow produces cells, but they are abnormal or immature.
Aplastic anemia: The bone marrow fails to produce enough blood cells at all.

❓ Can a child with MDS live a normal life?

Mild cases: The child may live a nearly normal life with regular monitoring.
Advanced cases: Intensive treatment or bone marrow transplant may be required.

❓ Is MDS contagious?

No, it is not contagious at all.

❓ Is there a link between MDS and poor nutrition?

Poor nutrition is not a direct cause, but a healthy diet helps support the child’s immunity and overall health during treatment.

❓ What are the complications of untreated MDS?

Severe anemia.
Weak immunity and frequent infections.
Serious bleeding due to low platelets.
Progression to leukemia in some cases.

❓ Is bone marrow transplant safe for children?

Yes, it is the main and most effective treatment. Like any major surgery, it carries risks (such as infection or graft rejection), but success rates are improving significantly with modern medicine.

❓ Do all children with MDS need a bone marrow transplant?

Not always. Some mild cases can be managed with supportive care or medications, but transplant is often the best option for advanced or high-risk cases.

❓ Does MDS affect growth and height in children?

Yes, chronic anemia and weak immunity may slow physical growth and development.

❓ Can a child with MDS go to school?

If the condition is stable: Yes, school attendance is possible.
If immunity is weak or platelets are very low: It’s better to limit exposure to infections and injuries.

❓ Are siblings at risk if one child has MDS?

If the cause is genetic (e.g., Fanconi or Down syndrome): There may be a risk.
If the cause is acquired: Siblings are not at risk.

❓ Can a child with MDS receive vaccinations?

Routine vaccines are usually allowed.
Live vaccines (like measles or oral polio) may need to be postponed if the immune system is weak.

❓ Is there a link between MDS and cancer treatment?

Yes, some children who previously received chemotherapy or radiation therapy for cancer may later develop MDS.

❓ Can MDS return after treatment?

Yes, relapse (recurrence) is possible even after treatment or bone marrow transplant. Continuous follow-up with a doctor is essential.

❓ How can parents protect their child from complications?

Maintain good hygiene and a clean environment.
Limit exposure to infections.
Follow up regularly with the doctor.
Adhere to medications and blood transfusions when needed.
Provide a healthy diet and strong emotional support.

Stages of Myelodysplastic Syndromes in Children

The stages of pediatric MDS depend on:

How much the bone marrow is affected.
The percentage of immature cells (blasts).
The severity of symptoms and the risk of progression to acute myeloid leukemia (AML).

Mild stage (Low-risk / Early MDS)

Slight reduction in one or two types of blood cells.
Mild symptoms: light fatigue, few bruises, rare infections.
Bone marrow: few immature cells (<5% blasts).

Intermediate stage (Intermediate-risk MDS)

Reduction in more than one type of blood cell (multi-lineage dysplasia).
Moderate symptoms: fatigue, bleeding, frequent infections.
Bone marrow: 5–10% blasts.

Advanced / High-risk stage (Severe MDS)

Severe reduction in multiple blood cell types.
Clear symptoms: severe fatigue, repeated bleeding, serious infections.
Bone marrow: >10–20% blasts.
High risk of transformation to AML.

Syndrome-associated MDS (Genetic type)

Appears in children with genetic syndromes (e.g., Fanconi anemia, Down syndrome).
Risk of progression to leukemia is higher than in acquired cases.

✅ Causes of MDS in Children

Genetic / Inherited causes

Fanconi anemia: weak blood cell production, higher cancer risk.
Down syndrome: higher risk of developing MDS.
Rare syndromes: Shwachman-Diamond and Dyskeratosis congenita.

Acquired causes

Previous chemotherapy or radiation for tumors.
Exposure to chemicals (like benzene, though rare in children).
Viral infections that affect bone marrow.

Immune-related causes

Congenital or acquired immune problems interfering with bone marrow function.

Unknown causes (Idiopathic)

In many cases, the exact cause is not known and requires bone marrow tests and genetic studies.

Symptoms of Myelodysplastic Syndromes (MDS) in Children

Symptoms of Low Red Blood Cells (Anemia)

Pale skin and gums.
General fatigue and weakness.
Easy tiredness and shortness of breath with effort.

Symptoms of Low Platelets (Bleeding / Bruising)

Frequent unexplained bruises.
Nosebleeds or gum bleeding.
Small red or purple spots on the skin (petechiae).

Symptoms of Low White Blood Cells (Weak Immunity)

Recurrent or severe infections.
High fever without a clear cause.

Other General Symptoms

Loss of appetite or slow growth.
Enlarged liver or spleen.
Cancer-like symptoms in rare types of MDS.

Types of Myelodysplastic Syndromes in Children

MDS with Single-lineage Dysplasia
- Affects only one type of blood cell (e.g., red cells or platelets).
- Symptoms are usually mild.
MDS with Multi-lineage Dysplasia
- Affects more than one type of blood cell.
- Symptoms are more severe: fatigue, bleeding, recurrent infections.
MDS with Excess Blasts
- Noticeable increase in immature cells (blasts).
- Higher risk of progression to acute myeloid leukemia (AML).
Syndrome-associated MDS
- Appears with inherited syndromes such as Fanconi anemia, Down syndrome, or Shwachman-Diamond syndrome.
- Usually more difficult to treat and often requires close monitoring or bone marrow transplantation.

Diagnosis of Myelodysplastic Syndromes in Children

Diagnosing pediatric MDS is not a single step; it requires a combination of medical evaluations and specialized tests to determine which cells are affected and how severe the condition is.

1. Medical History & Physical Examination

Observing symptoms such as fatigue, bleeding, or recurrent infections.
Checking skin and gums for bruises.
Examining the liver and spleen for enlargement.
Asking about family history of genetic disorders or previous chemotherapy/radiation.

2. Blood Tests (CBC + Blood Smear)

A complete blood count (CBC) shows which blood cells are low.
A blood smear under the microscope reveals any abnormal shapes or defects in blood cells.

3. Bone Marrow Biopsy

The most important test to examine bone marrow directly.
Determines the shape and number of cells, the percentage of immature cells (blasts), and signs of progression to leukemia.

4. Genetic and Chromosomal Testing

Detects mutations or chromosomal abnormalities linked to MDS.
Helps in selecting the most effective treatment plan.

5. Additional Tests

Liver and kidney function tests to check overall health.
Ultrasound or imaging of the abdomen to assess spleen or liver enlargement.

⚠️ Complications of Myelodysplastic Syndromes (MDS) in Children

The complications of MDS depend on which blood cells are reduced, and this affects the child’s health and daily life:

Due to low red blood cells (anemia): severe fatigue, paleness, shortness of breath.
Due to low platelets: frequent bleeding, easy bruising, small red spots on the skin (petechiae).
Due to low white blood cells: weak immunity, frequent or severe infections.
High risk of progression to acute myeloid leukemia (AML).
Long-term effects: growth delay, poor appetite, psychological stress due to ongoing treatments.

Treatment of Myelodysplastic Syndromes in Children with Medications

Treatment is tailored to the type and severity of MDS, as well as the child’s condition:

1. Blood Cell Stimulating Agents

Erythropoietin (EPO): stimulates red blood cell production.
G-CSF (Granulocyte Colony-Stimulating Factor): boosts white blood cell production.

2. Chemotherapy

Used for high-risk cases or as preparation before bone marrow transplantation.

3. Immunotherapy

Immunosuppressive drugs such as ATG (antithymocyte globulin) or cyclosporine.

4. Targeted Gene Therapy

Drugs such as azacitidine or decitabine in cases with specific genetic mutations.

5. Supportive Therapy

Blood and platelet transfusions.
Antibiotics to prevent or treat infections.
Nutritional supplements and vitamins.

Treatment of MDS in Children with Vitamins and Minerals

Vitamins and minerals are supportive treatments that help improve bone marrow health and immunity, but they do not cure MDS.

1. Essential Vitamins

Vitamin B12: vital for the maturation of red blood cells.
Folic acid: supports DNA synthesis and reduces anemia complications.
Vitamin C: strengthens the immune system and enhances iron absorption.
Vitamin D: important for bone health and immunity.

2. Key Minerals

Iron: given only if deficiency is confirmed.
Zinc: supports immunity and bone marrow function.
Selenium and copper: essential for blood cell function and overall health.

⚠️ Important: Supplements must be taken under medical supervision to avoid overdosing or drug interactions.

Surgical Treatment and Bone Marrow Transplant

Bone marrow (stem cell) transplant:
- The only treatment that can potentially cure MDS.
- Involves replacing diseased bone marrow with healthy donor cells.
Splenectomy (spleen removal):
- Rarely performed.
- Considered only if the spleen is severely enlarged and causing serious problems.
- Does not cure the disease itself.

Tips for Managing MDS in Children

Regular Medical Follow-up
- Routine blood tests, bone marrow biopsies, and genetic studies.
- Consult the doctor immediately for new or unusual symptoms.
Managing Symptoms
- Blood transfusions or stimulating agents when needed.
- Avoid contact sports to minimize bleeding risks.
- Maintain strict hygiene and avoid sources of infection.
Healthy Lifestyle
- Balanced diet rich in vegetables, fruits, and protein.
- Adequate sleep and rest.
- Light physical activity under medical guidance.
Emotional and Psychological Support
- Encourage the child to express feelings and fears.
- Provide a calm and supportive family environment.
- Join support groups for families dealing with MDS.
Preparing for Long-term Treatment
- Understand that the child may require a bone marrow transplant or repeated transfusions.
- Monitor side effects of medications and work closely with the healthcare team.