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NBME Q what's the diagnosis??
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Author2 Posts
  #1

A 4-month-old boy is brought to the physician because
of a 2-day
history of fever and progressive redness around his
right eye. He has had
persistent diarrhea and oral candidiasis since birth
and was treated for
pneumococcal pneumonia at the age of 2 months. He
appears ill. His
temperature is 39 C (102.2 F), pulse is 130/min, and
respirations are
25/min. Examination shows violaceous preseptal
(periorbital) cellulitis
and oral candidiasis. Laboratory studies show:


Hemoglobin 10 g/dL
Leukocyte count 3000/mm3
Segmented neutrophils 85%
Lymphocytes 15%
Platelet count 350,000/mm3
Serum
IgA <5 mg/dL
IgG 300 mg/dL
IgM <5 mg/dL

Which of the following is the most likely diagnosis?

A
) AIDS

B
) Chronic granulomatous disease

C
) Severe combined immunodeficiency

D
) Thymic-parathyroid dysplasia (DiGeorge syndrome)

E
) X-linked agammaglobulinemia



  #2

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