Question

g 3-month-old male presents to the pediatrician's office for a well-child check. Physical examination reveals many bruises on his body and eczema of the scalp and face. Laboratory analysis shows high levels of IgE and IgA. A complete blood count is remarkable for thrombocytopenia. DNA analysis reveals a mutation in the WAS gene. What is the most likely diagnosis

Answer 1

Wiskott-Aldrich Syndrome(WAS)

Reason- It is a rare X-linked recessive disease characterized by eczema, thrombocytopenia, suppresed immunity and bloody in diarrhoea.WAS occurs due to mutations in a gene on the short arm of the X chromosome.

Diagnosis:- It been diagnosed on the basis of peripheral blood smear and low IgM levels.

Treatment:- There is no definite treatment present. It is based on the basis of treating the symptoms. Child is advised to wear helmet to prevent bleed in the brain. Gene therapy is also a option at a smaller age.