EXAM QUESTIONS AND ANSWERS 2026
COMPLETE STUDY GUIDE
◉ (4) A mother notes her 6-week-old son's umbilical cord is still
attached. His activity and intake are normal; there has been no
illness or fever. Delivery was at term without problems. His
examination is notable for a cord without evidence of separation and
a shallow, 0.5cm ulceration at the occiput without discharge or
surrounding erythema. Mother declares that the "sore," caused by a
scalp probe, has been slowly healing since birth and was deemed
unremarkable at his 2-week checkup. Which of the following is
consistent with this child's likely diagnosis?
A. Defective humoral response
B. Functional leukocyte adherence glycoproteins
C. Marked neutrophilia
D. Normal wound healing
E. Purulent abscess formation. Answer: C. You suspect leukocyte
adhesion deficiency (LAD) as the etiology of this child's problem.
LAD is an inheritable disorder of leukocyte chemotaxis and
adherence characterized by recurring sinopulmonary,
oropharyngeal, and cutaneous infections with delayed wound
healing. Neutrophila is common with WBC counts of typically more
than 50,000 cells/mm. Severe, life-threatening infection is possible
with Staphylococcus species, Enterobacteriaceae, and Candida
,species. Good skin and oral hygiene are important; broad-spectrum
antimicrobials and surgical debridement are early consideration
with infection.
◉ (4) A 6-month-old girl is seen after an emergency room visit for
decreased intake, emesis, and watery diarrhea for the past 3 days.
She was diagnosed yesterday with "stomach flu" and given IV fluids.
She is doing better today with improved intake and resolution of her
emesis and diarrhea. The father is concerned about her thrush since
birth (despite multiple courses of an oral antifungal) and that she
has been hospitalized twice for pneumonia over the past 4 months.
Her weight has dropped from the 50th percentile on her 4-month
visit to the 5th percentile today. She has no findings consistent with
dehydration, but she does appear to have some extremity muscle
wasting. Her examination is remarkable for buccal mucosal exudates
and hyperactive bowel sounds. Vital signs and the remainder of her
examination are normal. You suspect severe combined
immunodeficiency (SCID). Which of the following is consistent with
the diagn. Answer: C. SCID is an autosomal recessive or X-linked
disorder of both humoral and cellular immunity. Serum
immunoglobulins and T cells are often markedly diminished or
absent. Thymic dysgenesis is also seen. Recurring cutaneous,
gastrointestinal, or pulmonary infections occur with opportunistic
organisms such as cytomegalovirus (CMV) and PCP. Death typically
occurs in the first 12 to 24 months of life unless bone marrow
transplantation is performed.
, ◉ (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. Answer: 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.
◉ (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?
A. Vitamin A