Peds

Question 1

Congenital listeriosis can lead to …

Answer 1

Congenital listeriosis (Neonatal listeriosis)
is a neonatal infection with Listeria monocytogenes. Significant risk factors include maternal exposure to unpasteurized dairy. Intrauterine infection causes early-onset severe systemic infection with respiratory distress syndrome and skin lesions (granulomatosis infantiseptica). Peripartum infection causes meningitis/encephalitis at ~ 3 weeks of age.

Question 2

What disorder involves the triad of recurrent infections with encapsulated organisms, eczema and purpura?

Answer 2

Wiskott-Aldrich syndrome

A congenital (x-linked recessive) immunodeficiency that is characterized by the classic triad of eczema, thrombocytopenic purpura, and recurrent opportunistic infections. Caused by a mutation in the WAS gene, which results in impaired signaling to actin cytoskeleton reorganization and therefore impaired T-cell function and thrombocytopenia.

Question 3

What gene leads to the x-linked recessive immunodeficiency that is characterized by the classic triad of eczema, thrombocytopenic purpura, and recurrent opportunistic infections?

Answer 3

Caused by a mutation in the WAS gene, which results in impaired signaling to actin cytoskeleton reorganization and therefore impaired T-cell function and thrombocytopenia.

Question 4

What is the appropriate treatment for the disease causing thrombocytopenia, eczema, and recurring opportunistic infections?

Answer 4

Treatment for Wiskott-Aldrich syndrome:
• IV immunoglobulin therapy
• Prophylactic antibiotics
• Platelet transfusions
• Stem cell transplantation (curative)