A five- year- old child presents with repeated sinus infections due to Hemophilus influenzae and Streptococcus pneumoniae. On physical exam, the child appeared to have scoliosis and was not well developed for his age. He also appeared to have an inflammatory skin condition. Laboratory results as follows. What is the most likely diagnosis?

Complete blood count—red cells, white cells and platelets within normal limits
WBC differential—50% neutrophils, 30% lymphocytes, 15% eosinophils, 5% monocytes
Serum protein electrophoresis—within normal limits
Urinalysis—within normal limits
serum IgG—within normal limits
serum IgA—within normal limits
serum IgM—within normal limits
serum IgE —100 times the upper limit of normal

Question

A five- year- old child presents with repeated sinus infections due to Hemophilus influenzae and Streptococcus pneumoniae. On physical exam, the child appeared to have scoliosis and was not well developed for his age. He also appeared to have an inflammatory skin condition. Laboratory results as follows. What is the most likely diagnosis?

Complete blood count—red cells, white cells and platelets within normal limits
WBC differential—50% neutrophils, 30% lymphocytes, 15% eosinophils, 5% monocytes
Serum protein electrophoresis—within normal limits
Urinalysis—within normal limits
serum IgG—within normal limits
serum IgA—within normal limits
serum IgM—within normal limits
serum IgE —100 times the upper limit of normal

Quizplus · Accepted Answer

The child's presentation of repeated sinus infections, scoliosis, poor development, an inflammatory skin condition, and especially the serum IgE level being 100 times the upper limit of normal, points towards Job's syndrome (Hyper-IgE syndrome). This condition is characterized by high levels of IgE, recurrent infections, and often comes with skeletal and skin abnormalities.

A Five- Year- Old Child Presents with Repeated Sinus Infections