What Is Pediatric Wiskott-Aldrich Syndrome?

Wiskott-Aldrich syndrome is a genetic disorder that majorly affects males more than females. The disorder disables a child’s bone marrow to produce platelets, owing to which they face some bleeding problems. There are one to 10 out of one million who have this syndrome. It is a complex disorder that is also X-linked and immunodeficient that presents symptoms such as rashes and recurrent infections in the body. Moreover, when the platelet counts of the body are declined due to this disorder, it also interferes with the body's normal clotting abilities, resulting in many bleeding-related complications. In severe cases, some of the patients also have cancer called lymphoma.

This syndrome has two types. Usually, younger boys have the “classic” type of syndrome. However, when they have a “milder” form of the syndrome, it is known as X-linked thrombocytopenia (XLT). The cause of this type is the same as the classic type, only milder in severity. Normally, the size and number of the platelet count are less in this type. This results in frequent bruising of the skin. As the disorder is male-dominant, females are usually asymptomatic and silent carriers throughout their life. However, they may pass this syndrome to their children.

What Are the Causes Behind Pediatric Wiskott-Aldrich Syndrome?

It is a genetically mutated disorder caused by one of the two X-chromosomes. A mother has two X-chromosomes, and a father has X and Y chromosomes. If a mother is a carrier of one of the X chromosomes, which is mutated, there is a chance of having one normal chromosome. As a result, even if a mother is a carrier of the syndrome, there are chances that she will be asymptomatic throughout her life. On the other hand, if the mother’s X chromosome is mutated and the reason for the syndrome, the chances of male babies having the symptoms related to the syndrome are high due to one X and one Y chromosome.

What Are the Signs and Symptoms of Pediatric Wiskott-Aldrich Syndrome?

Wiskott-Aldrich syndrome does not show its signs and symptoms right after birth. Usually, between the time of birth and one year, a child faces some of the milder symptoms of this disorder. Additionally, there are many signs and symptoms related to the severity of this syndrome. These are:

• Recurrent fungal, bacterial, and viral infections in the body.

• Bowel dysfunction may cause frequent diarrhea in children.

• Eczema and red itchy rashes.

• Due to decreased platelet count, the chances of abnormal bleeding are very high. This majorly affects the face, brain, and bowel.

• Very severe food allergies.

• Some patients may face abnormal changes in the skin, such as unidentified bruises under and on the skin, cellulitis, abscesses, and small red-colored dots on the skin.

• In severe care, patients may face chronic autoimmune disorders such as inflammatory bowel syndrome, rheumatoid arthritis, hemolytic anemia, and kidney and liver damage.

• Some of the cases may have cancers such as leukemia and lymphoma.

How to Diagnose Pediatric Wiskott-Aldrich Syndrome?

The diagnosis related to this disorder is:

• The first step to any successful disease diagnosis is taking a detailed and accurate medical history. This not only includes details about the child but also some of the family histories as well.

• Secondly, doctors may recommend a platelet count test.

• A blood test that shows Wiskott-Aldrich syndrome protein in the white blood cells.

• A genetic test can reveal any mutation or abnormality related to genes.

What Are the Complications Associated With Pediatric Wiskott-Aldrich Syndrome?

There are many complications related to the Wiskott-Aldrich syndromes, such as:

• Autoimmune Attack on the Blood Cells: Due to compromised immunity associated with this syndrome, there are many complications related to other organs as well.

• Pneumonia: It is the infection that inflames the air sacs of the lungs resulting in chronic cough, fever, and chills with this. It can be caused by various bacteria, fungi, or viruses. If the condition is severe and untreated, it can be life-threatening.

• Viral Infections: Due to immune system failure, a child can face viral infections, such as herpes, cytomegalovirus, and Epstein-Barr virus.

• Bacterial Infections: Immunodeficiency associated with this condition can cause abnormality of T and B cells in the body, which makes a person more susceptible to bacterial infections.

• Ear and Sinus Infections: Bacterial and viral infections affect the upper and lower respiratory tract causing ear and sinus infections.

• Atopic Dermatitis: A compromised immune system can also be the reason behind all the allergic reactions on the skin. The child may have rashes and red patches on the skin.

• Nephritis: It is a condition where the tissues of the kidney are inflamed, which fails to filter out the waste products from the blood. Many symptoms are associated with this complication, such as swelling of the face, hands, and feet, fatigue, and anemia.

• Vasculitis: It is a condition that involves inflammation of the blood vessels resulting in organ or tissue damage.

How to Manage Pediatric Wiskott-Aldrich Syndrome?

There are several options available for the management of the syndrome and the symptoms associated with it. Such as:

• Basic Precautions: There are some general precautions necessary for children with Wiskott-Aldrich syndrome. Such as:

  • Parents should teach children the importance of regular hand washing. All family members and visitors should strictly follow this habit.

  • With a doctor’s recommendation, parents should keep antiviral, antifungal, and antibacterial medicines handy in an emergency.

  • Parents should keep a close eye on the health of the child, his regular follow-up visits, and his regular immunization schedule.

• Preventing Infections: There is a higher chance of catching an infection in a child with this syndrome. Because of this, parents or caregivers should make their child wear a face covering, especially if the child is not in a controlled environment.

• Vaccinations: As the B-cells of the body do not produce adequate antibodies in children affected by this disorder, the body is very weak to fight against viruses. And since its vaccine is the live virus, the chances of getting an infection from it are too high. On the other hand, other vaccines that contain attenuated forms can prove to be useful in fighting against the complications such as meningitis and pneumonia.

• Antibody Infusion: As the B-cells are not produced in the body, the child may need a regular infusion of the antibody immunoglobulin.

• Preventing Bleeding and Bruising: Children with this syndrome are more prone to an uncontrolled bleeding disorder. As a result, their parents should take some basic precautions in their daily routine. Such as:

  • Children should avoid physical activities that pose a great risk of trauma to the body.

  • Children should regularly wear helmets and other protecting gear.

  • Skin Complications: Children with this disorder also have many skin problems, so they should avoid cosmetic products with fragrances or other irritants. After a bath, parents should remember to apply moisturizer to the skin to avoid any dryness or rashes. Most importantly, if the child has severe skin complications, such as abscesses, parents should immediately seek medical attention.

  • Stem Cell or Bone Marrow Transplant: This is the mainstay of the Wiskott-Aldrich syndrome. It is the only option that gives a 100 % chance of the cure of this syndrome. Stem cells are versatile and very powerful cells of the body. Children with this syndrome are injected with healthy donor cells into their bloodstream. Later they develop into healthy white blood cells and platelets that revive the body's immune system. If the body’s immune system is completely functioning, it means that the syndrome is cured.

  • Gene Therapy: In the cases where the stem cells or bone marrow transplant does not work, gene therapy is the next option. Occasionally, donor cells attack the patient’s body during the transplant treatment. Usually, this happens because of an inadequate match of the donor cells or if the donor is unrelated to the patient. This condition is called “graft-versus-host disease.” In a situation like this, gene therapy offers promising results. In gene therapy, the stem cells from the patient’s own body are injected. The cells are enhanced with added ingredients and a healthy version of their mutated genes.

Conclusion:

Wiskott-Aldrich syndrome is a rare disorder causing a myriad of health complications. Because it affects the body's immune system, there are a million chances of patients getting infections or allergic reactions. It is very important for parents and doctors to give regular checkups and medical treatment even for the slightest sign of infection. Because of the weak immune system, the chances of a small infection causing a life-threatening condition are very likely.