What Is Wiskott-Aldrich Syndrome?

Vescott-Aldrich syndrome (WAS), which is eczema, thrombocytopenia, and immunodeficiency syndrome, is a rare X-linked recessive inherited disease in which T cells, B cells, and platelets are affected. The clinical manifestations are the triad of immunodeficiency, eczema, and thrombocytopenia.

Causes of Pediatric Vescott-Aldrich Syndrome

This disease is a sex-linked recessive genetic disease with sporadic cases but no family history.

Pediatric Vescott-Aldrich syndrome clinical manifestations

This disease is more common in men, and is characterized by neonatal onset in infancy, with a triad, namely thrombocytopenia, platelet intrinsic metabolic disorders, easy rupture, often causing bleeding and purpura formation; severe eczema; repeated multiple infections.

Thrombocytopenic purpura and blood in the stool are the earliest, more common in 1 month after birth, and can cause severe bleeding such as cerebral hemorrhage and gastrointestinal bleeding. Eczema generally occurs 2 to 3 months after birth, and the condition worsens with age and is difficult to control. , Similar to atopic dermatitis or seborrheic dermatitis, 3 months to 1 year after birth, children with frequent bacterial and viral infections, common infection pathogens include Gram-positive and negative bacteria, causing pneumonia, bronchitis , Sinusitis, otitis media, meningitis, and sepsis, viruses such as measles, chicken pox, herpes simplex, and cytomegalovirus infections, and fungi such as Candida albicans and protozoa such as Pneumocystis carinii infection, which are long and difficult to control .

Asthma, urticaria, and diarrhea are more common, and malignant tumors of the lymphatic reticulum system such as lymphoma, reticulocytosarcoma, reticulocyte lymphosarcoma, malignant reticulohistiocytosis, and acute leukemia are also common. 10% of patients Complicated with malignant lesions, often died of severe bleeding, infection, malignant tumors.

Pediatric Vescott-Aldrich Syndrome

Immunological examination

Patients have defects in cellular and humoral immunity, negative skin delayed allergies, and about 90% of children have a negative skin test for dinitrochlorobenzene (DNCB). The lymphocyte conversion rate is low after specific antigen stimulation, but it is stimulating to PHA. The normal lymphoblast cell transformation rate is normal. IgM and IgM antibodies (such as blood group lectins, etc.) are lacking in blood, but IgA and IgG levels are normal or increased. For polysaccharide antigens (such as pneumococcal capsules) Antigen) Poorly produced antibodies after stimulating the body, the response to protein antigens is normal, the lymphocytes in blood are often reduced, complement content and phagocytosis are normal, and thrombocytopenia is caused by the rapid destruction of platelet internal defects, and the platelet volume is small. ADP, collagen and epinephrine exhibit abnormal agglutination reactions.

2. Histopathological examination

The number of small lymphocytes in the thymus of the child was reduced, the cortex and medulla were difficult to distinguish, the lymphocytes in the paracortical area of the lymph nodes were progressively attenuated, and lymphoid follicles were present.

Pediatric Vescott-Aldrich syndrome diagnosis

When thrombocytopenia and hemorrhage are the only manifestations, they should be distinguished from thrombocytopenic purpura, and gene sequence analysis can confirm the diagnosis.

Pediatric Vescott-Aldrich syndrome complications

Asthma, urticaria, and diarrhea are more common, and malignant tumors of the lymphatic reticulum system such as lymphoma, reticulocytosarcoma, reticulolymphosarcoma, malignant reticulohistiocytosis, and acute leukemia are also common. Complicated with malignant lesions.

Pediatric Vescott-Aldrich Syndrome Treatment

Blood transfusions can help control bleeding. Appropriate antibiotics are used to control infection, radiation-treated plasma is used to prevent infection, and 33% of children are effective in injecting transfer factors.

Pediatric Vescott-Aldrich syndrome prognosis

In the past, patients generally died of infection within 3.5 years after birth. At present, the survival time has been extended above 11 years, and some patients have reached 20 years and above, and the quality of life has improved significantly. The causes of death were infection (44%), bleeding (23%), and malignancy (26%). After 30 years of age, the chance of malignant tumors, especially lymphomas, suddenly increases. Stem cell transplantation significantly improves infection and bleeding, but is not satisfied with the effect of preventing the occurrence of malignant tumors.