Question

A 3-year-old child is presenting with a general failure to thrive in combination with mild splenomegaly and hepatomegaly, as well as peripheral lymphadenopathy. The child has a history of recurrent viral respiratory infections and molluscum contagiosum. At the age of 20 months, he had to undergo surgery to remove a tumor from his bowel. Pathology indicated it was most likely the result of a lymphoproliferative disorder. The patient was found to be positive for Epstein Barr Virus (EBV) using blood serology. Serology also indicated the patient was positive for Herpes Simplex Virus (HSV), Varicella Zoster Virus (VZV) and Cytomegalovirus (CMV). Flow cytometry indicated that total lymphocyte count, total B-cell and T-cell count, including T-cell subsets, were within normal limits. Family history indicates that the patient is from a consanguineous lineage and that several cousins also had a history of recurrent viral infections and failure to thrive.

1. What is this patient likely suffering from?

2. How would you confirm your provisional diagnosis?

Answer 1

1. The child is likely to be suffering from PIDD (primary immunodeficiency diseases) . Which is group of   disorders affecting immune system leads to decreased immunity causing various infections in life. These are family inherited type of diseases.

2 . Confirmation of provisional diagnosis is done with the help of presenting symptoms of patient, the treatment history and lab results. In the presenting symptoms we can see typical symptoms of PIDD such as failure to thrive, spleenomegaly, heptomegaly , lymphadenopathy, skin disease like molluscam and recurrent viral respiratory diseases including cytomegalovirus, varicella, Epstein bar virus etc these viruses commonly attack during immunocompromised situations. His family history also suggests his cousins having same diseases . His past health history says he having surgery for mass in abdomen as result of lymphoproliferative disease. Lymphoproliferative disease is a complication of PIDD. However his lab value shows normal T cell and B cell count in flow cytometry but that itself not enough, more lab tests are needed for patient like DNA based testing to find out type of PIDD . So by checking his classical symptoms and history we can provisionally diagnose patient is suffering from PIDD.