Hematology Practice Questions

Q: Which of the following does not require a lumbar puncture in children?

HL. ***HL*** - While central nervous system (CNS) involvement is possible in Hodgkin lymphoma (HL), it is **rare** and does not routinely warrant a **lumbar puncture** for initial staging or surveillance in asymptomatic children. - HL primarily affects **lymph nodes** and the **spleen**, with CNS spread being an uncommon complication that typically presents with specific neurological symptoms. *AML* - **Acute myeloid leukemia (AML)** has a significant risk of **CNS involvement**, requiring a **lumbar puncture** for diagnostic staging and administration of intrathecal chemotherapy. - CNS prophylaxis and treatment are crucial in AML to prevent and manage **leptomeningeal disease**. *NHL* - **Non-Hodgkin lymphoma (NHL)**, particularly aggressive subtypes like Burkitt lymphoma or lymphoblastic lymphoma, has a **high propensity for CNS spread**. - A **lumbar puncture** is essential for staging to detect CNS involvement and guide the need for intrathecal chemotherapy or radiation. *ALL* - **Acute lymphoblastic leukemia (ALL)** carries a well-documented **high risk of CNS infiltration**, necessitating routine **lumbar punctures** at diagnosis for CNS staging and throughout treatment for intrathecal chemotherapy. - CNS prophylaxis is a cornerstone of ALL treatment to prevent **leptomeningeal relapse**.

Q: A previously healthy child has sudden onset of red spots on body. There is a history of a preceding viral infection 1-4 weeks before the onset.

Idiopathic thrombocytopenic purpura. ***Idiopathic thrombocytopenic purpura (ITP)*** - This presentation, especially in a previously healthy child with a preceding viral infection 1-4 weeks prior, is highly characteristic of **acute ITP**, leading to **purpuric rash** (red spots). - The preceding viral infection often triggers an autoimmune response causing destruction of **platelets**, resulting in **thrombocytopenia**. *Dengue fever* - Dengue fever typically presents with **acute onset of fever**, **headache**, **myalgia**, and a rash that appears 3-4 days after fever onset, often with a shorter incubation period than 1-4 weeks. - While it can cause petechiae due to **thrombocytopenia**, the symptom constellation does not perfectly align with the scenario, particularly the sudden onset of spots without mention of fever or other acute symptoms. *Hemophilia A* - **Hemophilia A** is a **hereditary bleeding disorder** causing deficits in **Factor VIII**, leading to spontaneous bleeding into joints and muscles, and prolonged bleeding after trauma. - It does not present as sudden onset red spots (petechiae/purpura) following a viral infection but rather as larger **hematomas** or **hemarthroses**, and it's a chronic condition, not typically triggered by recent infection. *Thrombotic thrombocytopenic purpura (TTP)* - TTP is characterized by the **pentad of symptoms**: **fever**, **neurological symptoms**, **renal dysfunction**, **microangiopathic hemolytic anemia**, and **thrombocytopenia**. - While it involves thrombocytopenia and can cause purpura, the patient's presentation lacks the other severe systemic features typically associated with TTP, and it's less commonly triggered by a simple viral infection in children.

Q: A male child with gallbladder stone has Hb of 6 gm%, serum bilirubin 2.5 mg%, and high urobilinogen in urine. The diagnosis is:

Hemolytic jaundice. **Hemolytic jaundice** - The presence of **anemia** (Hb 6 gm/DL), **unconjugated hyperbilirubinemia** (total bilirubin 2.5 mg/dL suggests this given normal liver function, though direct bilirubin is not specified, indirect hyperbilirubinemia is typical), and **increased urinary urobilinogen** are classic signs of increased red blood cell destruction [1]. - **Gallbladder stones** (cholelithiasis) in a child with anemia and hemolytic features suggest conditions like **hereditary spherocytosis** or **sickle cell anemia** where chronic hemolysis leads to pigment gallstone formation. *Hepatocellular jaundice* - This would typically involve significantly elevated **liver enzymes** (ALT, AST) and often a mix of conjugated and unconjugated hyperbilirubinemia due to impaired hepatic uptake, conjugation, and excretion. - High urobilinogen in urine is not specific to hepatocellular damage; it reflects increased bilirubin load to the liver. *Secondary biliary cirrhosis* - This is a long-term complication of chronic **biliary obstruction**, leading to liver fibrosis and eventually cirrhosis. While gallbladder stones *can* lead to obstruction, the primary presentation here points to a hemolytic process, and **cirrhosis** would involve more pronounced liver dysfunction and portal hypertension, not just anemia and hyperbilirubinemia. - The symptoms described are acute and point towards hemolysis rather than chronic liver disease. *Obstructive jaundice* - Caused by a blockage in the bile ducts, leading to impaired bilirubin excretion. This would result in predominantly **conjugated hyperbilirubinemia** and **dark urine** with **pale stools**, and often **absent or low urinary urobilinogen** because bilirubin cannot reach the gut for conversion [1]. - The high urinary urobilinogen in this case explicitly rules out complete biliary obstruction, and unconjugated bilirubin is typically elevated in hemolytic jaundice.

Q: Which of the following is the most common hematologic malignancy associated with Neurofibromatosis-1 (NF-1) in a child?

Juvenile Myelomonocytic Leukemia (JMML). ***Juvenile Myelomonocytic Leukemia (JMML)*** - **JMML** is a myelodysplastic/myeloproliferative neoplasm that is strongly associated with **NF-1** in children, particularly due to mutations in the *NF1* gene. - Children with **NF-1** have a significantly increased risk of developing **JMML** compared to the general pediatric population. *Chronic Myeloid Leukemia (CML)* - While CML can occur in children, it is typically associated with the **Philadelphia chromosome (BCR-ABL1 fusion gene)** and not a common tumor directly linked to NF-1. - **CML** is relatively rare in childhood compared to other leukemias and is not a characteristic complication of NF-1. *Acute Lymphoblastic Leukemia (ALL)* - **ALL** is the most common childhood cancer overall, but its association with **NF-1** is not as specific or strong as that of **JMML**. - While children with NF-1 may have a slightly increased risk of certain cancers, **ALL** is not the *most common* tumor directly linked to NF-1. *Acute Myeloid Leukemia (AML)* - **AML** has a weak association with **NF-1**, particularly specific subtypes, but it is less frequent and less specifically linked than **JMML**. - The direct genetic pathway involving the **NF1 gene** mutation in the development of **AML** is not as clearly defined as it is for **JMML**.

Q: False about Shwachman-Diamond syndrome

Leucocytosis. ***Leucocytosis*** - **Leucocytosis** (an increase in white blood cells) is generally **not** a feature of Shwachman-Diamond syndrome (SDS); rather, patients typically experience **neutropenia** (low neutrophils) due to bone marrow dysfunction. - This persistent or intermittent neutropenia is a hallmark of the immune deficiency seen in SDS, making leucocytosis an incorrect finding. *Bone marrow dysfunction* - **Bone marrow dysfunction** is a defining characteristic of Shwachman-Diamond syndrome, leading to various **cytopenias**, most notably **neutropenia**. - This dysfunction can also manifest as anemia or thrombocytopenia, contributing to the overall morbidity of the disease. *Exocrine pancreatic insufficiency* - **Exocrine pancreatic insufficiency** is a primary clinical feature of Shwachman-Diamond syndrome, leading to **malabsorption** and **failure to thrive**. - This insufficiency is due to abnormal pancreatic development and is distinct from the more severe pancreatic involvement seen in cystic fibrosis. *Short stature* - **Short stature** is a common finding in children with Shwachman-Diamond syndrome, often resulting from a combination of **growth plate abnormalities** and **malnutrition** due to pancreatic insufficiency. - It is considered a key **skeletal manifestation** of the disease, along with metaphyseal chondrodysplasia.

Q: A boy after playing football complaining fatigue and abdominal pain. He also had a history of hand swelling in past. On ultrasonography, he has shrunken spleen. What is the likely diagnosis of this patient?

Sickle cell anemia. ### Sickle cell anemia - This patient's history of **hand swelling** (dactylitis), current **fatigue**, and **abdominal pain** are classic symptoms of sickle cell crises in **sickle cell anemia**. - The finding of a **shrunken spleen** on ultrasonography is consistent with **autosplenectomy**, a common complication of sickle cell disease due to repeated infarctions [1]. *Acute pancreatitis* - While acute pancreatitis can cause **severe abdominal pain**, it typically presents with elevated amylase/lipase, and does not explain the history of **hand swelling** or **shrunken spleen**. - There is no specific connection between playing football and developing acute pancreatitis in this context. *Iron deficiency anemia* - **Iron deficiency anemia** can cause **fatigue**, but it does not typically cause **abdominal pain**, **hand swelling**, or **autosplenectomy**. - A definitive diagnosis would require iron studies, which are not mentioned here. *Intermittent porphyria* - **Intermittent porphyria** can cause **abdominal pain** and neurological symptoms, but it does not manifest with **hand swelling** or **splenic atrophy**. - Its clinical presentation is distinctly different from the symptoms described.

Q: A 5-year-old boy with sickle cell disease presents with acute chest syndrome. His SpO2 is 88% on room air, with elevated WBC and LDH levels, and the chest X-ray shows new infiltrates. Assess and choose the best combination of treatments.

Oxygen, antibiotics, blood transfusion. ***Oxygen, antibiotics, blood transfusion*** - **Oxygen** is crucial for treating **hypoxemia** (SpO2 88%) in acute chest syndrome (ACS) to improve tissue oxygenation and reduce sickling. - **Broad-spectrum antibiotics** are essential due to the high likelihood of bacterial infection as a trigger for ACS, given the **elevated WBC** and risk of atypical organisms. Exchange transfusion (or simple transfusion) may be required in severe cases or to rapidly increase oxygen-carrying capacity. *Bronchodilators, corticosteroids, IV fluids* - **Bronchodilators** and **corticosteroids** are typically used for **asthma** or other obstructive airway diseases, which are not the primary pathology in ACS, although a component of bronchospasm can exist. - While **IV fluids** are important for hydration in sickle cell disease, this combination does not address the core issues of infection, sickling, and severe hypoxemia. *Exchange transfusion, anticoagulation* - **Exchange transfusion** is an important treatment for severe ACS, but it is often combined with **oxygen and antibiotics** as initial stabilizers, not used in isolation. - **Anticoagulation** is generally not indicated in the routine management of ACS unless there is a confirmed thrombotic event, as the pathophysiology is primarily vaso-occlusion and inflammation, not thrombosis requiring anticoagulation. *Hydroxyurea, IV fluids, pain management* - **Hydroxyurea** is a long-term preventative medication for sickle cell disease, not an acute treatment for ACS. - **IV fluids** and **pain management** are supportive measures, but they do not directly address the severe hypoxemia, infection, or the acute sickling crisis in the lungs, which require more aggressive intervention.

Q: A child with frequent nosebleeds and a family history of similar symptoms is being evaluated for a possible bleeding disorder. Which test is most critical for diagnosing a likely inherited condition?

Coagulation profile. ***Coagulation profile*** - A **coagulation profile**, including **prothrombin time (PT)**, **activated partial thromboplastin time (aPTT)**, and **fibrinogen levels**, is critical for evaluating the **extrinsic, intrinsic, and common pathways** of coagulation. - This helps identify potential deficiencies in **clotting factors**, which are often the cause of **inherited bleeding disorders** like **hemophilia** or **von Willebrand disease**. *Complete blood count* - A **CBC** provides information about **red blood cells**, **white blood cells**, and **platelet count**. - While it can reveal **anemia** from chronic bleeding or **thrombocytopenia**, it does not assess the **function of clotting factors** or the overall coagulation cascade. *Platelet function tests* - **Platelet function tests** (e.g., **platelet aggregation studies**) evaluate how well platelets adhere and aggregate to form a primary plug. - While important for disorders like **Glanzmann thrombasthenia** or **Bernard-Soulier syndrome**, a more general assessment of the **coagulation cascade** (coagulation profile) is typically the initial critical step in diagnosing the spectrum of inherited bleeding disorders when the type is unknown. *Genetic testing for clotting factor mutations* - **Genetic testing** is highly specific and confirms the exact **genetic mutation** responsible for an inherited bleeding disorder. - However, it is usually performed **after abnormalities are identified** in a **coagulation profile** or other initial screening tests, as it guides which specific genes to test for.

Q: A 5-year-old girl presents with pallor, fatigue, and a new heart murmur. Laboratory tests reveal hemolytic anemia and reticulocytosis. What is the most likely diagnosis?

Hereditary spherocytosis. ***Hereditary spherocytosis*** - **Pallor**, **fatigue**, and a new **heart murmur** suggesting anemia, coupled with laboratory findings of **hemolytic anemia** and **reticulocytosis**, are hallmark signs. - The presence of **spherocytes** on a peripheral blood smear and a positive **osmotic fragility test** would further confirm this diagnosis. *Iron deficiency anemia* - While it causes **pallor** and **fatigue**, it is characterized by **microcytic, hypochromic** red blood cells, not hemolytic anemia or reticulocytosis. - **Reticulocytosis** typically occurs only after iron supplementation as the bone marrow begins to produce new red blood cells. *Sickle cell disease* - Presents with significant **pain crises**, **vaso-occlusive events**, and organ damage, not just pallor and a murmur. - Characterized by **sickled red blood cells** on a peripheral smear, and a **hemoglobin electrophoresis** would confirm the presence of **HbS**. *G6PD deficiency* - An X-linked recessive disorder causing episodic **hemolytic anemia** when exposed to certain **oxidative stressors** like fava beans or certain medications. - While it causes hemolytic anemia and reticulocytosis, the episodic nature and trigger exposure are usually key distinguishing features, and there's no mention of a trigger here.

Question 1

Which of the following does not require a lumbar puncture in children?

Accepted Answer

HL

Answer

AML

Answer

NHL

Answer

ALL

Question 2

A previously healthy child has sudden onset of red spots on body. There is a history of a preceding viral infection 1-4 weeks before the onset.

Accepted Answer

Idiopathic thrombocytopenic purpura

Answer

Dengue fever

Answer

Hemophilia A

Answer

Thrombotic thrombocytopenic purpura

Question 3

A male child with gallbladder stone has Hb of 6 gm%, serum bilirubin 2.5 mg%, and high urobilinogen in urine. The diagnosis is:

Accepted Answer

Hemolytic jaundice

Answer

Hepatocellular jaundice

Answer

Secondary biliary cirrhosis

Answer

Obstructive jaundice

Question 4

Which of the following is the most common hematologic malignancy associated with Neurofibromatosis-1 (NF-1) in a child?

Accepted Answer

Juvenile Myelomonocytic Leukemia (JMML)

Answer

Chronic Myeloid Leukemia (CML)

Answer

Acute Lymphoblastic Leukemia (ALL)

Answer

Acute Myeloid Leukemia (AML)

Question 5

False about Shwachman-Diamond syndrome

Accepted Answer

Leucocytosis

Answer

Bone marrow dysfunction

Answer

Exocrine pancreatic insufficiency

Answer

Short stature

Question 6

A boy after playing football complaining fatigue and abdominal pain. He also had a history of hand swelling in past. On ultrasonography, he has shrunken spleen. What is the likely diagnosis of this patient?

Accepted Answer

Sickle cell anemia

Answer

Acute pancreatitis

Answer

Iron deficiency anemia

Answer

Intermittent porphyria

Question 7

A 3-year-old presents with a history of pallor, irritability, and fatigue. Physical examination reveals mucosal pallor and a systolic murmur. Laboratory results show hemoglobin of 6.5 g/dL, mean corpuscular volume of 55 fL, and reticulocyte count of 1%. Analyze and determine the likely cause of these findings.

Accepted Answer

Iron deficiency anemia; treatment with iron supplements

Answer

β-thalassemia minor; regular monitoring

Answer

Sickle cell anemia; supportive care

Answer

G6PD deficiency; management of oxidative stress

Question 8

A 5-year-old boy with sickle cell disease presents with acute chest syndrome. His SpO2 is 88% on room air, with elevated WBC and LDH levels, and the chest X-ray shows new infiltrates. Assess and choose the best combination of treatments.

Accepted Answer

Oxygen, antibiotics, blood transfusion

Answer

Bronchodilators, corticosteroids, IV fluids

Answer

Exchange transfusion, anticoagulation

Answer

Hydroxyurea, IV fluids, pain management

Question 9

A child with frequent nosebleeds and a family history of similar symptoms is being evaluated for a possible bleeding disorder. Which test is most critical for diagnosing a likely inherited condition?

Accepted Answer

Coagulation profile

Answer

Complete blood count

Answer

Platelet function tests

Answer

Genetic testing for clotting factor mutations

Question 10

A 5-year-old girl presents with pallor, fatigue, and a new heart murmur. Laboratory tests reveal hemolytic anemia and reticulocytosis. What is the most likely diagnosis?

Accepted Answer

Hereditary spherocytosis

Answer

Iron deficiency anemia

Answer

Sickle cell disease

Answer

G6PD deficiency

Hematology — MCQs

Hematology — MCQs

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