A 3-year-old boy is brought to the physician by his mother because of a 2-week history of generalized fatigue, intermittent fever, and occasional bleeding from his nose. His temperature is 38.3°C (100.9°F). He appears pale. Physical examination shows cervical lymphadenopathy and multiple petechiae on his trunk. The spleen is palpated 3 cm below the left costal margin. His hemoglobin concentration is 9.3 g/dL, leukocyte count is 63,000/mm3, and platelet count is 30,000/mm3. A bone marrow aspirate predominantly shows immature leukocytes that stain positive for CD10, CD19, and terminal deoxynucleotidyl transferase (TdT), and negative for myeloperoxidase. Which of the following is the most likely diagnosis?
Q12
A 3-year-old boy is brought to the physician because of a 3-day history of fever and chills. The mother reports that he has also been limping for 2 days. He has no history of trauma to this region. His temperature is 38.9°C (102°F). Physical examination shows dull tenderness over his left lower extremity. The range of motion of the leg is also limited by pain. While walking, he avoids putting weight on his left leg. Laboratory studies show an erythrocyte sedimentation rate of 67 mm/h. An MRI is most likely to show abnormalities in which of the following regions?
Q13
A 14-year-old Somalian boy is brought to the emergency department by his mother because of a painful penile erection since he woke up 3 hours ago. His family recently emigrated to the United States from a refugee camp, and his past medical history is unknown. He has never had a health check up prior to this visit. On further questioning, his mother reports that the child is often fatigued and sick, and has episodes of joint pain. Examination shows ejection systolic murmurs heard over the precordium. Examination of the genitalia shows an engorged, tumescent penis. The remainder of the examination shows no abnormalities. Which of the following is the most likely underlying cause?
Q14
An 18-month-old toddler is brought to the pediatrician by her mother for cough. The mother reports that her daughter has had a productive-sounding cough and runny nose for the past 2 days. She has also noticed that her daughter feels warm. On chart review, this is the 4th time this patient is presenting for similar concerns; the 3 previous diagnoses were otitis media (2 episodes) and bacterial sinusitis (1 episode). Her temperature is 38.3°C (101.0°F). Physical examination is notable for cough and purulent sputum from both nares, although her lungs are clear to auscultation. Sputum gram stain shows gram-positive diplococci. Serum immunoglobulin studies show elevated levels of IgM and decreased levels of IgG and IgA. Which of the following is the most likely underlying diagnosis in this patient?
Q15
A 2-year-old girl presents with a rash on her body. Patient’s mother says she noticed the rash onset about 5 hours ago. For the previous 3 days, she says the patient has had a high fever of 39.0°C (102.2°F). Today the fever abruptly subsided but the rash appeared. Vitals are temperature 37.0°C (98.6°F), blood pressure 95/55 mm Hg, pulse 110/min, respiratory rate 30/min, and oxygen saturation 99% on room air. Physical examination reveals a maculopapular, non-confluent, blanchable rash on her back, abdomen, and chest extending superiorly towards the nape of the patient’s neck. Which of the following is this patient’s most likely diagnosis?
Q16
A 5-year-old African immigrant girl is brought to the office by her mother because she has had a fever and cough for the past month. They moved from Africa to the United States about 8 months ago. She denies any sore throat, rhinorrhea, diarrhea, or changes in appetite. Her mother says she has lost weight since her last visit 6 months ago for immunizations and a well-child visit. Previously, her weight was in the 36th percentile, but now she is in the 19th percentile. Her vital signs include: heart rate 75/min, respiratory rate 15/min, temperature 38.2°C (100.7°F), and blood pressure 110/76 mm Hg. Physical examination shows that the patient is breathing normally and has no nasal discharge. She has moderate non-tender cervical lymphadenopathy, bilaterally. On auscultation, there are diminished breath sounds from a right hemithorax. After the chest X-ray is ordered, which of the following is the most appropriate next step in management?
Q17
A previously healthy 2-year-old boy is brought to the emergency department because of a 36-hour history of fever and profuse, watery diarrhea. Several children at the child's daycare center have developed similar symptoms over the past few days. The patient has not received any routine childhood vaccines because his parents were afraid of associated side effects. He appears lethargic. His temperature is 38.1°C (100.6°F), pulse is 115/min, respirations are 25/min, and blood pressure is 90/58 mm Hg. Examination shows sunken eyes and dry mucous membranes. Capillary refill time is 3 seconds. Laboratory studies show:
Hematocrit 52%
Leukocyte count 9000/mm3
Platelet count 280,000/mm3
Serum
Na+ 151 mEq/L
K+ 3.2 mEq/L
HCO3- 19 mEq/L
Urea nitrogen 56 mEq/L
Creatinine 1.0 mEq/L
Glucose 90 mg/dL
Which of the following is the most appropriate initial step in management?
Q18
A 5-year-old girl presents for a routine checkup. The patient’s parents say she has been looking pale and tired lately. Her family history is unremarkable. Upon physical examination, several bruises are seen, as well as petechial bleeding on her limbs. A complete blood count shows leukocytosis with severe anemia and thrombocytopenia. A peripheral blood smear shows 35% blasts. Ultrasonography of the abdomen shows hepatosplenomegaly and a chest radiograph reveals a mediastinal mass. Which of the following is the most likely diagnosis in this patient?
Q19
A 7-year-old girl is brought to the physician by her mother because of a 2-week history of generalized fatigue, intermittent fever, and progressively worsening shortness of breath. Physical examination shows pallor, jugular venous distention, and nontender cervical and axillary lymphadenopathy. Inspiratory stridor is heard on auscultation of the chest. The liver is palpated 3 cm below the right costal margin. Her hemoglobin concentration is 9.5 g/dL, leukocyte count is 66,000/mm³, and platelet count is 102,000/mm³. An x-ray of the chest shows a mediastinal mass. A bone marrow aspirate predominantly shows leukocytes and presence of 35% lymphoblasts. Which of the following additional findings is most likely in this patient?
Q20
A 16-year-old girl is brought to the physician for recurrent episodes of shortness of breath, nonproductive cough, and chest tightness for 3 months. These episodes occur especially while playing sports and resolve spontaneously with rest. She appears healthy. Her pulse is 63/min, respirations are 15/min, and blood pressure is 102/70 mm Hg. Pulse oximetry on room air shows an oxygen saturation of 98%. Physical examination shows no abnormalities. An x-ray of the chest shows no abnormalities. Spirometry shows a FEV1:FVC ratio of 85% and a FEV1of 85% of predicted. Which of the following is the most appropriate next step in management?
Infectious Disease US Medical PG Practice Questions and MCQs
Question 11: A 3-year-old boy is brought to the physician by his mother because of a 2-week history of generalized fatigue, intermittent fever, and occasional bleeding from his nose. His temperature is 38.3°C (100.9°F). He appears pale. Physical examination shows cervical lymphadenopathy and multiple petechiae on his trunk. The spleen is palpated 3 cm below the left costal margin. His hemoglobin concentration is 9.3 g/dL, leukocyte count is 63,000/mm3, and platelet count is 30,000/mm3. A bone marrow aspirate predominantly shows immature leukocytes that stain positive for CD10, CD19, and terminal deoxynucleotidyl transferase (TdT), and negative for myeloperoxidase. Which of the following is the most likely diagnosis?
A. Acute megakaryoblastic leukemia
B. Acute myelomonocytic leukemia
C. Hairy cell leukemia
D. Pre-B-cell acute lymphoblastic leukemia (Correct Answer)
E. T-cell chronic lymphocytic leukemia
Explanation: ***Pre-B-cell acute lymphoblastic leukemia***
- The patient's age (3 years old), **pancytopenia** (anemia, thrombocytopenia, and elevated WBC count with immature forms), **splenomegaly**, and **lymphadenopathy** are classic signs of ALL.
- The presence of immature leukocytes positive for **CD10, CD19, and TdT**, and negative for **myeloperoxidase (MPO)**, is specific for B-cell acute lymphoblastic leukemia.
*Acute megakaryoblastic leukemia*
- This leukemia is characterized by proliferation of **megakaryoblasts**.
- While it can manifest with pancytopenia, it would typically show immunophenotype markers like **CD41 and CD61**, not CD10 and TdT.
*Acute myelomonocytic leukemia*
- This is a type of **acute myeloid leukemia (AML)** and would show immature cells with **myeloid differentiation**.
- Cells would typically be positive for **myeloperoxidase (MPO)** and lack lymphoid markers like CD10 and TdT.
*Hairy cell leukemia*
- This is a **rare, chronic B-cell leukemia** typically seen in older adults, not children, and characterized by cells with "hairy" projections.
- While it involves B-cells, the immunophenotype and age of presentation do not match the case.
*T-cell chronic lymphocytic leukemia*
- This is a **chronic leukemia** primarily affecting older adults, not young children, and involves mature T-lymphocytes.
- The cell morphology and immunophenotype (immature cells positive for CD10, CD19, TdT) are inconsistent with this diagnosis.
Question 12: A 3-year-old boy is brought to the physician because of a 3-day history of fever and chills. The mother reports that he has also been limping for 2 days. He has no history of trauma to this region. His temperature is 38.9°C (102°F). Physical examination shows dull tenderness over his left lower extremity. The range of motion of the leg is also limited by pain. While walking, he avoids putting weight on his left leg. Laboratory studies show an erythrocyte sedimentation rate of 67 mm/h. An MRI is most likely to show abnormalities in which of the following regions?
A. Lumbar vertebral body
B. Diaphysis of the tibia
C. Proximal metaphysis of the femur (Correct Answer)
D. Acetabulum of the ilium
E. Proximal epiphysis of the femur
Explanation: **Proximal metaphysis of the femur**
- This clinical presentation, including fever, limping, localized tenderness, restricted range of motion, and elevated ESR, is highly suggestive of **osteomyelitis**.
- In children, the **metaphysis of long bones** (like the proximal femur) is the most common site for hematogenous osteomyelitis due to its rich, slow-flowing blood supply, which favors bacterial deposition.
*Lumbar vertebral body*
- While osteomyelitis can affect the spine (**spondylodiscitis**), it typically presents with back pain and neurological symptoms, not usually a limping child with localized lower extremity tenderness.
- **Vertebral osteomyelitis** is more common in older adults or individuals with specific risk factors like intravenous drug use.
*Diaphysis of the tibia*
- While long bones are common sites, osteomyelitis in the **diaphysis** (shaft) is less frequent than in the metaphysis, especially in hematogenous spread in children.
- The **metaphyseal region's highly vascularized growth plate** makes it more susceptible.
*Acetabulum of the ilium*
- **Pelvic osteomyelitis**, including the acetabulum, can occur but is less common than in long bone metaphyses in children presenting with acute symptoms and limping.
- Tenderness would typically be felt in the hip or groin area, which might be less specific than the described lower extremity tenderness.
*Proximal epiphysis of the femur*
- The **epiphysis** is generally less vascularized and is protected by the growth plate, making it a much less common site for initial hematogenous osteomyelitis compared to the metaphysis in young children.
- Epiphyseal involvement is more often seen in very young infants or as an extension of metaphyseal infection.
Question 13: A 14-year-old Somalian boy is brought to the emergency department by his mother because of a painful penile erection since he woke up 3 hours ago. His family recently emigrated to the United States from a refugee camp, and his past medical history is unknown. He has never had a health check up prior to this visit. On further questioning, his mother reports that the child is often fatigued and sick, and has episodes of joint pain. Examination shows ejection systolic murmurs heard over the precordium. Examination of the genitalia shows an engorged, tumescent penis. The remainder of the examination shows no abnormalities. Which of the following is the most likely underlying cause?
A. Idiopathic
B. Heroin abuse
C. Non-Hodgkin lymphoma
D. Sickle cell disease (Correct Answer)
E. Sildenafil intake
Explanation: ***Sickle cell disease***
- The patient presents with **priapism**, a common and serious complication of **sickle cell disease** due to vaso-occlusion in the penile vasculature.
- History of recurrent episodes of **fatigue** and **joint pain** are characteristic symptoms of sickle cell crises, and the **ejection systolic murmur** can indicate anemia or cardiac changes associated with chronic hemolytic anemia.
*Idiopathic*
- While priapism can be idiopathic, the presence of other systemic symptoms like **fatigue** and **joint pain**, along with the patient's reported ethnicity and lack of prior medical history, points towards an underlying medical condition.
- Attributing it to an idiopathic cause would overlook the significant clinical clues present in this case.
*Heroin abuse*
- **Heroin abuse** can cause priapism, particularly with intravenous use leading to localized vascular issues or complications like rhabdomyolysis and renal failure.
- However, the patient's history of chronic fatigue and joint pain, along with the ethnicity, does not specifically align with heroin abuse as the primary cause for the constellation of symptoms.
*Non-Hodgkin lymphoma*
- Although **lymphoma** can cause priapism through leukostasis or infiltration of penile tissues, it is typically associated with symptoms like **lymphadenopathy**, **fever**, **night sweats**, and **weight loss**, which are not mentioned here.
- The patient's presentation with chronic fatigue and joint pain is not characteristic of lymphoma in isolation.
*Sildenafil intake*
- **Sildenafil** is a phosphodiesterase-5 inhibitor that can indeed cause priapism as a side effect.
- However, it is an unlikely cause in a 14-year-old boy without any mention of erectile dysfunction or previous use, and it does not explain the chronic symptoms of fatigue and joint pain.
Question 14: An 18-month-old toddler is brought to the pediatrician by her mother for cough. The mother reports that her daughter has had a productive-sounding cough and runny nose for the past 2 days. She has also noticed that her daughter feels warm. On chart review, this is the 4th time this patient is presenting for similar concerns; the 3 previous diagnoses were otitis media (2 episodes) and bacterial sinusitis (1 episode). Her temperature is 38.3°C (101.0°F). Physical examination is notable for cough and purulent sputum from both nares, although her lungs are clear to auscultation. Sputum gram stain shows gram-positive diplococci. Serum immunoglobulin studies show elevated levels of IgM and decreased levels of IgG and IgA. Which of the following is the most likely underlying diagnosis in this patient?
A. Bruton agammaglobulinemia
B. Severe combined immunodeficiency
C. Hyper-IgM syndrome (Correct Answer)
D. Selective IgA deficiency
E. Common variable immunodeficiency
Explanation: ***Hyper-IgM syndrome***
- This syndrome is characterized by **elevated IgM levels with decreased IgG and IgA**, precisely matching the patient's serum immunoglobulin study results.
- Patients are susceptible to recurrent sinopulmonary bacterial infections, such as those caused by **Streptococcus pneumoniae (gram-positive diplococci)**, due to defective class switching from IgM to other immunoglobulin classes.
- The age of presentation (18 months) with recurrent bacterial infections is typical for this X-linked immunodeficiency.
*Bruton agammaglobulinemia*
- This condition is characterized by a severe deficiency of **all immunoglobulin classes (IgG, IgA, IgM, IgE)**, which is not consistent with the patient's elevated IgM levels.
- Patients typically present with recurrent bacterial infections from 6 months of age, but the immunoglobulin profile seen here rules it out.
*Severe combined immunodeficiency (SCID)*
- SCID involves severe dysfunction of **both B and T lymphocytes**, leading to recurrent infections with bacteria, viruses, fungi, and opportunistic pathogens.
- The immunoglobulin findings would typically show **low levels of all immunoglobulin classes**, along with lymphopenia (low lymphocyte count), which is not indicated here.
*Selective IgA deficiency*
- This is the **most common primary immunodeficiency**, characterized by isolated **low IgA levels** with normal levels of IgG and IgM.
- While patients can have recurrent sinopulmonary infections, the elevated IgM and decreased IgG observed in this patient rule out isolated IgA deficiency.
*Common variable immunodeficiency (CVID)*
- CVID is characterized by **low levels of IgG and IgA (and sometimes IgM)** due to impaired B-cell differentiation, typically presenting later in childhood or adulthood.
- The patient's **elevated IgM levels** contradict CVID, and the young age (18 months) is atypical for CVID, which usually presents in the second or third decade of life.
Question 15: A 2-year-old girl presents with a rash on her body. Patient’s mother says she noticed the rash onset about 5 hours ago. For the previous 3 days, she says the patient has had a high fever of 39.0°C (102.2°F). Today the fever abruptly subsided but the rash appeared. Vitals are temperature 37.0°C (98.6°F), blood pressure 95/55 mm Hg, pulse 110/min, respiratory rate 30/min, and oxygen saturation 99% on room air. Physical examination reveals a maculopapular, non-confluent, blanchable rash on her back, abdomen, and chest extending superiorly towards the nape of the patient’s neck. Which of the following is this patient’s most likely diagnosis?
A. Measles
B. Rubella
C. Varicella
D. Roseola (Correct Answer)
E. Erythema infectiosum (fifth disease)
Explanation: ***Roseola***
- This diagnosis is characterized by a **high fever lasting 3-5 days**, which **abruptly subsides**, followed by the appearance of a **maculopapular rash**. This "fever-then-rash" pattern is classic for roseola, also known as exanthem subitum.
- Roseola is caused by **Human Herpesvirus 6 (HHV-6)** and commonly affects children aged 6 months to 3 years.
*Measles*
- Measles typically presents with a **prodrome of cough, coryza, conjunctivitis, and Koplik spots** before the rash appears. The rash typically starts on the face and spreads downwards, often becoming **confluent**.
- Fever in measles usually **persists or even increases** after the rash appears, unlike the abrupt resolution seen in this patient.
*Rubella*
- Rubella, or German measles, is characterized by a **milder fever** and a rash that typically starts on the face and spreads rapidly downwards. Symptoms often include **posterior auricular and suboccipital lymphadenopathy**.
- The rash is usually **finer** and less prominent than measles, and the fever patterns do not match the abrupt resolution described.
*Varicella*
- Varicella (chickenpox) presents with a characteristic **pruritic vesicular rash** that appears in sequential crops, evolving from macules to papules to vesicles and crusts, often described as "dewdrops on a rose petal."
- The fever in varicella typically accompanies the rash, not preceding it with an abrupt resolution as in this case.
*Erythema infectiosum (fifth disease)*
- This condition is caused by **Parvovirus B19** and is characterized by a "slapped cheek" rash on the face, followed by a **lacy, reticular rash** on the trunk and extremities.
- Fever is usually **mild or absent** and does not typically precede the rash in the classic high-fever-then-abrupt-resolution pattern seen here.
Question 16: A 5-year-old African immigrant girl is brought to the office by her mother because she has had a fever and cough for the past month. They moved from Africa to the United States about 8 months ago. She denies any sore throat, rhinorrhea, diarrhea, or changes in appetite. Her mother says she has lost weight since her last visit 6 months ago for immunizations and a well-child visit. Previously, her weight was in the 36th percentile, but now she is in the 19th percentile. Her vital signs include: heart rate 75/min, respiratory rate 15/min, temperature 38.2°C (100.7°F), and blood pressure 110/76 mm Hg. Physical examination shows that the patient is breathing normally and has no nasal discharge. She has moderate non-tender cervical lymphadenopathy, bilaterally. On auscultation, there are diminished breath sounds from a right hemithorax. After the chest X-ray is ordered, which of the following is the most appropriate next step in management?
A. Bartonella serology
B. Rapid strep throat test
C. Tuberculin skin test (Correct Answer)
D. Viral nasal swab
E. Lymph node biopsy
Explanation: ***Tuberculin skin test***
- The patient has several risk factors for **tuberculosis (TB)**, including being an **immigrant from Africa**, presenting with **fever, cough, and weight loss for a month**, and having **cervical lymphadenopathy** and **diminished breath sounds** on one side, suggesting pleural effusion or consolidation.
- A **tuberculin skin test (TST)** or **interferon-gamma release assay (IGRA)** is the appropriate initial screening test for TB in this context.
*Bartonella serology*
- **Bartonella henselae** causes **cat scratch disease**, which typically presents with fever and lymphadenopathy, but the prolonged cough and significant weight loss are less characteristic.
- Though possible, **TB** is a more likely diagnosis given the patient's geographic origin and persistent pulmonary symptoms.
*Rapid strep throat test*
- This test is used to diagnose **Streptococcus pyogenes pharyngitis**, characterized by sore throat.
- The patient *denies* sore throat, and her symptoms of chronic cough, fever, and weight loss are not typical for strep throat.
*Viral nasal swab*
- A viral nasal swab is used to detect **respiratory viral infections**, such as influenza or RSV.
- The duration of the patient's symptoms (one month) and the presence of significant weight loss and lymphadenopathy make a common viral infection less likely.
*Lymph node biopsy*
- While **lymphadenopathy** is present, a lymph node biopsy is an invasive procedure and is typically reserved for cases where less invasive tests like TB screening or antibiotic trials have failed, or if there is high suspicion of malignancy.
- Given the strong suspicion for **TB**, a **TST** or **IGRA** should be performed first.
Question 17: A previously healthy 2-year-old boy is brought to the emergency department because of a 36-hour history of fever and profuse, watery diarrhea. Several children at the child's daycare center have developed similar symptoms over the past few days. The patient has not received any routine childhood vaccines because his parents were afraid of associated side effects. He appears lethargic. His temperature is 38.1°C (100.6°F), pulse is 115/min, respirations are 25/min, and blood pressure is 90/58 mm Hg. Examination shows sunken eyes and dry mucous membranes. Capillary refill time is 3 seconds. Laboratory studies show:
Hematocrit 52%
Leukocyte count 9000/mm3
Platelet count 280,000/mm3
Serum
Na+ 151 mEq/L
K+ 3.2 mEq/L
HCO3- 19 mEq/L
Urea nitrogen 56 mEq/L
Creatinine 1.0 mEq/L
Glucose 90 mg/dL
Which of the following is the most appropriate initial step in management?
A. Administer intravenous 0.9% saline solution (Correct Answer)
B. Administer intravenous 0.45% saline solution
C. Administer intravenous 5% dextrose in water
D. Administer intravenous 5% albumin
E. Perform stool PCR for rotavirus antigen
Explanation: ***Administer intravenous 0.9% saline solution***
- The patient presents with clear signs of **severe dehydration** (tachycardia, hypotension, sunken eyes, dry mucous membranes, delayed capillary refill, elevated hematocrit, elevated BUN, hypernatremia), necessitating rapid intravenous fluid resuscitation with an **isotonic solution**.
- **0.9% saline (normal saline)** is an isotonic solution that effectively expands intravascular volume, making it the appropriate choice for initial resuscitation in severe dehydration, especially in the presence of hypernatremia where rapid correction with hypotonic fluids could cause cerebral edema.
*Administer intravenous 0.45% saline solution*
- This is a **hypotonic solution**, which would be inappropriate for initial resuscitation in a patient with severe dehydration and hypernatremia, as it could cause a rapid shift of water into cells, potentially leading to **cerebral edema**.
- Hypotonic solutions are generally used for replacing free water deficits or for maintenance fluids after initial resuscitation.
*Administer intravenous 5% dextrose in water*
- This is a **hypotonic solution** (as dextrose is metabolized, it becomes free water) and is not suitable for initial resuscitation of severe dehydration due to the risk of **cerebral edema**.
- While it provides some glucose, the primary need in this patient is rapid volume expansion with an isotonic fluid.
*Administer intravenous 5% albumin*
- Albumin is a **colloid solution** used for volume expansion, but it is not typically the first-line treatment for acute dehydration due to gastroenteritis.
- Its use is generally reserved for specific conditions like severe hypoalbuminemia, refractory shock, or acute liver failure, which are not the primary concerns here.
*Perform stool PCR for rotavirus antigen*
- While identifying the causative pathogen (e.g., **rotavirus**, given the unvaccinated status and diarrhea outbreak) is important for epidemiological purposes, it is **not the most appropriate initial step** in managing a child with severe dehydration.
- **Fluid resuscitation** to correct dehydration and hypovolemia is the immediate life-saving priority over diagnostic testing.
Question 18: A 5-year-old girl presents for a routine checkup. The patient’s parents say she has been looking pale and tired lately. Her family history is unremarkable. Upon physical examination, several bruises are seen, as well as petechial bleeding on her limbs. A complete blood count shows leukocytosis with severe anemia and thrombocytopenia. A peripheral blood smear shows 35% blasts. Ultrasonography of the abdomen shows hepatosplenomegaly and a chest radiograph reveals a mediastinal mass. Which of the following is the most likely diagnosis in this patient?
A. Chronic myeloid leukemia
B. Aplastic anemia
C. Acute lymphoblastic leukemia (Correct Answer)
D. Acute myeloid leukemia
E. Chronic lymphocytic leukemia
Explanation: ***Acute lymphoblastic leukemia***
- The combination of **leukocytosis**, **severe anemia**, and **thrombocytopenia** with **35% blasts** in a 5-year-old child strongly suggests an acute leukemia.
- **Hepatomegaly**, **splenomegaly**, and particularly a **mediastinal mass** are classic findings in childhood acute lymphoblastic leukemia (ALL) due to widespread infiltration of leukemic cells.
*Chronic myeloid leukemia*
- This condition is rare in children and typically presents with a very high white blood cell count dominated by **mature and immature myeloid cells**, not blasts.
- The presence of a **mediastinal mass** and predominance of blasts makes CML less likely.
*Aplastic anemia*
- Aplastic anemia is characterized by **pancytopenia** but would show a **hypocellular bone marrow** and a lack of blasts.
- The finding of 35% blasts on the peripheral smear **rules out aplastic anemia**.
*Acute myeloid leukemia*
- While AML also presents with **blasts**, severe anemia, and thrombocytopenia, a prominent **mediastinal mass** is less common in AML compared to ALL.
- AML blasts often have specific morphological features (e.g., **Auer rods**) not mentioned, and a lymphoid origin is more common with mediastinal involvement.
*Chronic lymphocytic leukemia*
- CLL is a disease primarily of **older adults** and is extremely rare in children.
- It is characterized by the accumulation of **mature, small lymphocytes**, not blasts, and does not typically present with a mediastinal mass in this age group.
Question 19: A 7-year-old girl is brought to the physician by her mother because of a 2-week history of generalized fatigue, intermittent fever, and progressively worsening shortness of breath. Physical examination shows pallor, jugular venous distention, and nontender cervical and axillary lymphadenopathy. Inspiratory stridor is heard on auscultation of the chest. The liver is palpated 3 cm below the right costal margin. Her hemoglobin concentration is 9.5 g/dL, leukocyte count is 66,000/mm³, and platelet count is 102,000/mm³. An x-ray of the chest shows a mediastinal mass. A bone marrow aspirate predominantly shows leukocytes and presence of 35% lymphoblasts. Which of the following additional findings is most likely in this patient?
A. t(8;14) translocation
B. Positive myeloperoxidase staining
C. Positive CD3/CD7 staining (Correct Answer)
D. t(9;22) translocation
E. Reed-Sternberg cells
Explanation: ***Positive CD3/CD7 staining***
- The presence of a **mediastinal mass** with **T-cell lymphoblastic leukemia/lymphoma (T-ALL)** is highly associated with a **T-cell immunophenotype**. **CD3** and **CD7** are **T-cell surface markers**.
- The constellation of findings, including **lymphadenopathy**, **hepatomegaly**, **bone marrow involvement** with 35% lymphoblasts, and a **mediastinal mass** causing **stridor**, is classic for T-ALL, which is typically of T-cell origin.
*t(8;14) translocation*
- This translocation is characteristic of **Burkitt lymphoma**, which typically presents as an **extranodal mass** (e.g., jaw, abdomen) rather than a primary mediastinal mass causing stridor.
- While Burkitt lymphoma is also a B-cell non-Hodgkin lymphoma and can have bone marrow involvement, the clinical picture here is not typical for Burkitt lymphoma.
*Positive myeloperoxidase staining*
- **Myeloperoxidase** is an enzyme found in the granules of **myeloid cells**, and its staining is characteristic of **acute myeloid leukemia (AML)**.
- While the patient has leukocytosis and anemia, the predominance of **lymphoblasts** in the bone marrow aspirate points away from AML.
*t(9;22) translocation*
- The **Philadelphia chromosome**, associated with **t(9;22) translocation**, is highly characteristic of **chronic myeloid leukemia (CML)** and can be seen in a subset of **B-cell acute lymphoblastic leukemia (B-ALL)**.
- However, the clinical presentation with a large mediastinal mass causing stridor is more typical of T-ALL, which is not strongly associated with t(9;22).
*Reed-Sternberg cells*
- **Reed-Sternberg cells** are the hallmark of **Hodgkin lymphoma**.
- While Hodgkin lymphoma can present with **mediastinal mass** and **lymphadenopathy**, it typically affects older children/adolescents or young adults, and the presence of **35% lymphoblasts** in the bone marrow indicates leukemia, not Hodgkin lymphoma.
Question 20: A 16-year-old girl is brought to the physician for recurrent episodes of shortness of breath, nonproductive cough, and chest tightness for 3 months. These episodes occur especially while playing sports and resolve spontaneously with rest. She appears healthy. Her pulse is 63/min, respirations are 15/min, and blood pressure is 102/70 mm Hg. Pulse oximetry on room air shows an oxygen saturation of 98%. Physical examination shows no abnormalities. An x-ray of the chest shows no abnormalities. Spirometry shows a FEV1:FVC ratio of 85% and a FEV1of 85% of predicted. Which of the following is the most appropriate next step in management?
A. Albuterol before exercise (Correct Answer)
B. Genetic testing
C. CT scan of the chest
D. Prednisone therapy
E. Echocardiography
Explanation: ***Albuterol before exercise***
- The patient's symptoms (shortness of breath, nonproductive cough, chest tightness, exercise-induced) are highly suggestive of **exercise-induced bronchoconstriction (EIB)**, a common manifestation of asthma.
- Spirometry results are normal at rest, which is typical for EIB, and **albuterol (a short-acting beta-agonist) administered before exercise** is the first-line treatment to prevent symptoms.
*Genetic testing*
- There are no clinical features in this presentation that suggest an underlying genetic disorder requiring genetic testing.
- Her symptoms are most consistent with a common, treatable respiratory condition rather than a rare genetic disease.
*CT scan of the chest*
- A chest CT scan is not indicated as the **chest X-ray is normal**, and the patient's symptoms are episodic and resolve spontaneously, ruling out acute structural lung disease.
- There is no evidence of infection, tumor, or other structural abnormalities that a CT would evaluate.
*Prednisone therapy*
- **Prednisone is a systemic corticosteroid** and is used for acute, severe asthma exacerbations or in cases of refractory asthma.
- The patient's symptoms are intermittent, resolve spontaneously with rest, indicating that chronic systemic steroids are not necessary or appropriate.
*Echocardiography*
- The patient's normal physical exam, normal oxygen saturation, and episodic nature of symptoms that resolve with rest make a primary cardiac etiology unlikely.
- **Echocardiography evaluates cardiac structure and function**, and there are no signs pointing towards a cardiac cause for her respiratory symptoms.