Hematology Practice Questions

Q: Crumpled tissue paper appearance.Patient with hepatosplenomegaly?

Gaucher disease. ***Gaucher disease*** - Characterized by the presence of **Gaucher cells** in the bone marrow or spleen, which are macrophages containing **glucocerebroside** that appear as **wrinkled tissue paper** or **crumpled tissue paper**. - It is an **autosomal recessive** lysosomal storage disease caused by a deficiency of the enzyme **glucocerebrosidase**, clinically manifesting with **hepatosplenomegaly**, **pancytopenia**, and **bone pain**. *Pompe disease* - Caused by a deficiency in **alpha-1,4-glucosidase** (acid maltase), leading to the accumulation of **glycogen** in lysosomes. - Primarily presents with **cardiomegaly** and **hypotonia** in infants, rather than the specific cytological finding of crumpled tissue paper. *Niemann–Pick disease* - Associated with **sphingomyelinase deficiency**, resulting in the accumulation of **sphingomyelin** within lysosomes. - Pathologically, it is characterized by the presence of **foam cells** (lipid-laden macrophages) rather than tissue paper cytoplasm; patients often present with hepatosplenomegaly and a **cherry-red spot** on the macula. *Tay–Sachs disease* - Caused by a deficiency of **hexosaminidase A**, leading to the accumulation of **GM2 ganglioside** in neurons. - It presents primarily with **neurodegeneration** (e.g., loss of milestones, exaggerated startle response) and a **cherry-red spot** on the exam, but typically lacks the hepatosplenomegaly seen in Gaucher disease.

Q: The most likely diagnosis is?

Thalassemia. ***Thalassemia*** - In pediatric populations, thalassemia often presents as a **microcytic hypochromic anemia** with a **disproportionately low MCV** compared to the red cell count (Mentzer Index < 13). - Hallmark findings include **hemoglobin electrophoresis** showing elevated HbA2 or HbF and target cells on the **peripheral blood smear**. *IDA* - Iron Deficiency Anemia (IDA) is characterized by **low ferritin** and **low serum iron**, which is the primary differentiator from thalassemia where ferritin is usually normal or high. - It typically presents with a **high Red Cell Distribution Width (RDW)**, whereas thalassemia minor often presents with a normal RDW. *Sideroblastic anemia* - This condition is characterized by the presence of **ringed sideroblasts** in the bone marrow, which are not seen in thalassemia. - It is classically associated with **elevated serum iron** and **ferritin** levels, caused by defective heme synthesis rather than globin chain production. *Anemia of chronic disease* - This type of anemia is typically **normocytic** or mildly microcytic and is associated with chronic inflammatory states. - It is differentiated by **low serum iron** but **normal or high ferritin** levels, indicating adequate iron stores that are sequestered and unavailable for erythropoiesis.

Q: Factor V,X?

Haemophilus influenzae. ***Haemophilus influenzae*** - **Haemophilus influenzae** is a fastidious organism that requires specific growth factors found in blood to survive in culture media. - Specifically, it requires **Factor X (hemin)** and **Factor V (NAD or NADP)**, which are present in **chocolate agar** but not in standard blood agar. *Rubella* - **Rubella** is a viral pathogen (togavirus) and does not require bacterial nutrient agar factors like X or V for replication. - Viral growth requirements are strictly **intracellular**, relying on host cell machinery rather than external biochemical factors. *HSV* - **Herpes Simplex Virus (HSV)** is an obligate **intracellular virus** that propagates within host cells, not on artificial agar media. - It does not have metabolic requirements for heme or NAD, distinguishing it completely from bacterial nutritional needs. *EBV* - **Epstein-Barr Virus (EBV)** is a herpesvirus that exhibits **B-lymphocyte tropism** and requires specialized cell culture lines for laboratory study. - Like other viruses, its replication is driven by **viral genetic material** integrated into host cells, independent of bacterial growth factors.

Q: A child was brought to the hospital with fever and rashes at both lower extremities. Labs: normal PT, APTT, & decreased platelet count. Peripheral smear: increased megakaryocyte count. What is the most probable diagnosis?

ITP. ***ITP (Immune Thrombocytopenic Purpura)*** - The combination of **isolated thrombocytopenia** (decreased platelet count with normal PT and APTT) and **increased bone marrow megakaryocytes** is the hallmark diagnostic finding for **ITP**. - This condition is often **autoimmune** in origin, frequently following a **viral infection** in children, resulting in peripheral platelet destruction. *Measles* - Presents with a **maculopapular rash** typically starting on the face and spreading downward, accompanied by **Koplik spots** and cough/coryza/conjunctivitis. - It does not cause a isolated significant **thrombocytopenia** with increased megakaryocytes on a peripheral smear. *Mumps* - Characterized primarily by **parotitis** (inflammation of the parotid glands) and fever. - It is not a typical cause of **petechial/purpuric rashes** or isolated **thrombocytopenia**. *Chicken pox* - Presents with a **vesicular rash** at various stages of development (

Q: A 5-year-old boy presents with petechial bleeding and bruising on his torso and limbs. He has no other signs or symptoms and does not appear ill. His mother reports a gastrointestinal infection several weeks prior to the onset of petechiae and bruising. Complete blood count reveals thrombocytopenia (<20 x 10^9/L), with other parameters within the expected range for his age. Prothrombin time, partial thromboplastin time, and metabolic panels are all within the reference range. What is the expected outcome of this blood disorder?

Complete resolution is expected.. ### Explanation The clinical presentation describes a classic case of **Immune Thrombocytopenic Purpura (ITP)**, the most common cause of isolated thrombocytopenia in children. **1. Why Option A is Correct:** In children, ITP typically follows a viral infection (respiratory or gastrointestinal) after a 1–4 week latent period. It is characterized by the sudden onset of petechiae and bruising in an otherwise healthy-appearing child. The hallmark is **isolated thrombocytopenia** (Platelets <100 x 10⁹/L) with normal PT, PTT, and hemoglobin. The prognosis is excellent; approximately **70–80% of children achieve complete spontaneous resolution** within 6 months, regardless of therapy. **2. Why the Other Options are Incorrect:** * **Option B:** This refers to the survival rates of pediatric malignancies like Acute Lymphoblastic Leukemia (ALL). While ALL presents with bruising, it typically involves "sick" symptoms (fever, bone pain), hepatosplenomegaly, and abnormalities in other cell lines (anemia/leukocytosis). * **Options C & D:** These describe **Hemophilia A (Factor VIII)** and **Hemophilia B (Factor IX)**. Hemophilias are coagulation factor deficiencies that present with deep tissue bleeds (hemarthrosis/hematomas) and a **prolonged aPTT**, rather than petechiae and isolated thrombocytopenia. **3. NEET-PG High-Yield Pearls:** * **Pathophysiology:** Anti-platelet antibodies (IgG) directed against GP IIb/IIIa or GP Ib/IX. * **Bone Marrow:** Not routinely required but would show **increased megakaryocytes** (compensatory). * **Management:** Observation is preferred if bleeding is minimal (dry purpura). If treatment is needed (wet purpura/active bleeding), **IVIG** or **Corticosteroids** are first-line. * **Chronic ITP:** Defined as thrombocytopenia persisting >12 months (occurs in ~20% of cases).

Question 1

Crumpled tissue paper appearance.Patient with hepatosplenomegaly?

Accepted Answer

Gaucher disease

Answer

Pompe disease

Answer

Niemann –Pick disease

Answer

Tay–Sachs disease

Question 2

The most likely diagnosis is?

Accepted Answer

Thalassemia

Answer

IDA

Answer

Sideroblastic anemia

Answer

Anemia of chronic disease

Question 3

Factor V,X?

Accepted Answer

Haemophilus influenzae

Answer

Rubella

Answer

HSV

Answer

EBV

Question 4

A child was brought to the hospital with fever and rashes at both lower extremities. Labs: normal PT, APTT, & decreased platelet count. Peripheral smear: increased megakaryocyte count. What is the most probable diagnosis?

Accepted Answer

ITP

Answer

Measles

Answer

Mumps

Answer

Chicken pox

Question 5

A 5-year-old boy presents with petechial bleeding and bruising on his torso and limbs. He has no other signs or symptoms and does not appear ill. His mother reports a gastrointestinal infection several weeks prior to the onset of petechiae and bruising. Complete blood count reveals thrombocytopenia (<20 x 10^9/L), with other parameters within the expected range for his age. Prothrombin time, partial thromboplastin time, and metabolic panels are all within the reference range. What is the expected outcome of this blood disorder?

Accepted Answer

Complete resolution is expected.

Answer

Survival rate is up to 70% depending on risk stratification.

Answer

Lifelong disease dependent on factor VIII substitution.

Answer

Lifelong disease dependent on factor IX substitution.

Hematology — MCQs

Hematology — MCQs

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