B. DiGeorge syndrome is caused by a 22q11 microdeletion. This syndromic
immunodeficiency is characterized by decreased T-cell production and
recurring infection. Findings include characteristic facies and
velocardiofacial defects such as ventricular septal defect and tetralogy of
Fallot. Thymic or parathyroid dysgenesis can occur, accompanied by
hypocalcemia and seizures. Developmental and speech delay are common
in older patients.
Give this one a try later!
(6) A 6-month-old infant has been growing poorly. His parents have changed his
formula three times without success. His examination is remarkable for a pale,
emaciated child with little subcutaneous fat and anterior fontanelle fullness. His lab
test results are notable for a hemolytic anemia and prolonged bleeding times.
Which of the following is the most appropriate next step?
1
A. Gather urine for pH and electrolytes
B. Measure serum factor IX levels
C. Measure serum immunoglobulins
,10/1/24, 9:11 AM NRNP 6541 MIDTERM 3 LATEST VERSIONS 2024-2025 /NRNP 6541 WEEK 6 MIDTERM REAL EXAM /MOST TESTED QU…
D. Obtain a sweat chloride concentration
E. Perform a hemoglobin electrophoresis
(17) Two weeks after a viral syndrome, a 2-year-old develops bruising and
generalized petechiae that is more prominent over the legs. He has neither
hepatosplenomegaly nor lymph node enlargement. Lab testing reveals a normal
hemoglobin, hematocrit, and white blood cell count and differential. The platelet
count is 15,000/mm. Which of the following is the most likely diagnosis?
2
A. Acute lymphoblastic leukemia
B. Aplastic anemia
C. Immune thrombocytopenic purpura
D. Thrombotic thrombocytopenic purpura
E. von Willebrand disease
(4) You are called urgently to examine a term, 2-hour-old newborn who has had
temperature instability, difficulty with feeding, and a suspected seizure. He has
atypical facies (wide-set eyes, a prominent nose, and a small mandible), a cleft
palate, and a holosystolic murmur. Stat laboratory tests and chest radiograph reveal
marked hypocalcemia, a boot-shaped heart, and no apparent thymus. Which of the
following is the most likely diagnosis?
A. Ataxia-telangiectasia
B. DiGeorge syndrome
C. Hyper-IgE syndrome
D. SCID
E. Wiskott-Aldrich syndrome
(6) A 2-day-old infant has significant nasal and rectal bleeding. He was delivered by
a midwife at home; the pregnancy was without complications. His Apgar scores
were 9 at 1 minute and 9 at 5 minutes. He has breast-fed well and has not required a
health-care professional visit since birth. Which of the following vitamin deficiencies
might explain his condition?
4
A. Vitamin A
B. Vitamin B1
C. Vitamin C
D. Vitamin D
E. Vitamin K
(4) A 15-year-old female A. The obese adolescent in this case has findings of
has a 1-month history of diabetes mellitus. Her cutaneous candidiasis is likely an
urinary frequency without indication of secondary immunosuppression related to
dysuria and recent onset hyperglycemia. In diabetes, hyperglycemia promotes
of an itchy rash beneath neutrophil dysfunction, and circulatory insufficiency
both breasts. She has been contributes to ineffective neutrophil chemotaxis during
gaining weight over the infection. HIV infection is possible and antibody testing
past year and regularly might be reasonable, but this scenario is most
complains of fatigue. She is consistent with hyperglycemia.
febrile with a weight
greater than the 99th
percentile and has an
erythematous, macular
rash beneath both breasts
characterized by satellite
lesions. UA is significant for
2+ glucosuria, but no
pyuria. Which of the
following is the most likely
diagnosis?
A. Diabetes mellitus
B. Fanconi syndrome
C. Human
immunodeficiency virus
D. Occult malignancy
E. Severe combined
immunodeficiency (SCID)
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