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Review Question - QID 106681

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QID 106681 (Type "106681" in App Search)
A 5-month-old is brought to the pediatrician by her mother because of concerns about her health. The mother states that since birth she has had recurrent bacterial infections despite every effort to maintain adequate hygiene to prevent infection. Upon questioning, the mother notes that while the child had an uncomplicated birth, she did have an abnormally delayed separation of her umbilical cord. The pediatrician decides to pursue further workup. Which of the following images is most likely to be observed during the course of this workup?
  • A
  • B
  • C
  • D
  • E

Figure A

9%

31/328

Figure B

13%

44/328

Figure C

12%

39/328

Figure D

52%

172/328

Figure E

9%

31/328

  • A
  • B
  • C
  • D
  • E

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This patient presents with leukocyte adhesion deficiency type 1 (LAD-1) in which neutrophilia is observed on peripheral blood smear (Figure D) due to the inability of neutrophils to exit the bloodstream.

LAD-1 is an autosomal recessive immunodeficiency causing phagocytic dysfunction. It is caused by a defect in the LFA-1 integrin protein on phagocytes which prevents their adherence and migration out of blood vessels. It presents with recurrent bacterial infections, absent pus formation, poor wound healing, and delayed separation of the umbilical cord. Neutrophilia will be observed on the peripheral blood smear due to the inability of phagocytes to exit circulation.

Figures are described in the incorrect answer choice explanations below.

Incorrect Answers:
Answer 1: Figure A demonstrates a normal peripheral blood smear. In LAD, the peripheral blood smear would demonstrate neutrophilia.
Answer 2: Figure B demonstrates giant granules in neutrophils as is observed in Chediak-Higashi syndrome.
Answer 3: Figure C demonstrates thrombocytopenia as is observed in Wiskott-Aldrich syndrome
Answer 5: Figure E demonstrates a negative nitroblue tetrazolium (NBT) test which is observed in chronic granulomatous disease. Illustration A demonstrates a positive NBT.

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