General Pathology Practice Questions

Q: A 2-year-old child presents with growth retardation, pallor, bruising and has palpable spleen 5 cm below left costal margin. Bone marrow examination is shown below. Which is incorrect about the clinical diagnosis? (Recent NEET Pattern 2016-17)

Defect on chromosome 3. ***Defect on chromosome 3*** - The clinical presentation (growth retardation, pallor, bruising, massive splenomegaly) and the bone marrow image showing a **Gaucher cell** (macrophage with a characteristic "crinkled paper" or "crumpled tissue paper" cytoplasm due to glucocerebroside accumulation) are classic for **Gaucher disease**. - Gaucher disease is caused by a **deficiency of the enzyme glucocerebrosidase**, which is encoded by the GBA gene located on **chromosome 1q21**, not chromosome 3. Therefore, a defect on chromosome 3 is incorrect. *Glucosylceramide accumulation in reticulo-endothelial cells* - This is a correct feature of Gaucher disease, where the deficient enzyme **glucocerebrosidase** leads to the accumulation of its substrate, **glucocerebroside (glucosylceramide)**, primarily within macrophages (reticulo-endothelial cells). - These lipid-laden macrophages are known as **Gaucher cells** and are pathognomonic for the disease. *Bleeding episodes* - **Thrombocytopenia** (low platelet count) is a common hematological manifestation in Gaucher disease, often due to **hypersplenism** caused by massive splenomegaly and direct bone marrow infiltration. - This low platelet count can lead to an increased tendency for **bruising and bleeding episodes**, which is consistent with the patient's bruising. *Erlenmeyer flask deformity of the distal femur* - This is a characteristic **radiological finding** in Gaucher disease, particularly in the long bones. - It refers to the **widening of the distal metaphysis** of the femur, resembling an Erlenmeyer flask, due to bone marrow infiltration by Gaucher cells.

Q: A 6-month-old child presents with loss of vision and regression of milestones. On examination hepatosplenomegaly and lymphadenopathy is seen. The bone marrow aspiration shows abnormal macrophage shown below. It stains positive for fat and negative for iron. Identify the cell.

Niemann-Pick cell. ***Niemann-Pick cell*** - The image shows a macrophage with a **foamy, vacuolated cytoplasm**, which is characteristic of a Niemann-Pick cell, resulting from the accumulation of **sphingomyelin**. [1] - The clinical presentation of a 6-month-old with **loss of vision, regression of milestones, hepatosplenomegaly, and lymphadenopathy** is highly consistent with Niemann-Pick disease. [1] *Gaucher cell* - A Gaucher cell typically has a **fibrillar or "crinkled paper" cytoplasm** appearance due to the accumulation of glucocerebroside, which is different from the foamy appearance seen here. - While Gaucher disease presents with hepatosplenomegaly, **neurological regression and vision loss in infancy** are more characteristic of Niemann-Pick disease type A in this age group. *Hemosiderosis* - Hemosiderosis involves the accumulation of **iron (hemosiderin)** within macrophages, which would stain positive for iron. The question states the cells stained **negative for iron**. - Clinically, hemosiderosis is primarily characterized by organ damage due to iron overload, not neurological regression or vision loss in infancy as described. *Hallervorden Spatz disease* - Hallervorden Spatz disease (now known as pantothenate kinase-associated neurodegeneration) is a neurological disorder characterized by **iron accumulation in the basal ganglia**. - It does not primarily present with generalized macrophage abnormalities like those seen here, nor with prominent hepatosplenomegaly or lymphadenopathy and the affected cells would contain iron, not fat. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 161-162.

Q: A 50-year-old patient with family history positive for premature coronary artery disease is found to have lumps on Achilles tendon. Biopsy from the lesion shows presence of:

Touton giant cell. ***Touton giant cell*** - The clinical presentation of **Achilles tendon lumps** in a patient with **family history of premature coronary artery disease** is classic for **tendinous xanthomas** seen in familial hypercholesterolemia. - **Touton giant cells** are the characteristic histologic finding in xanthomas, featuring **multiple nuclei arranged in a ring** around a central area of **foamy, lipid-laden cytoplasm**. - These multinucleated giant cells form when macrophages fuse together in response to lipid accumulation in tissues. *Foam cell* - **Foam cells** (lipid-laden macrophages) are indeed present in xanthomas and give them their characteristic appearance. - However, they are typically **mononuclear or binuclear cells**, not the specific multinucleated giant cells with ring-like nuclear arrangement. - While foam cells are a component of xanthomas, the question asks for the most characteristic cell type found on biopsy. *Fatty streak* - A **fatty streak** is an early atherosclerotic lesion found in the **intima of arterial walls**, not in tendons. - It represents a macroscopic pathologic finding in blood vessels, consisting of aggregates of foam cells. - This would not be found in a biopsy of an Achilles tendon lump. *Langhan's giant cells* - **Langhan's giant cells** are characteristic of **chronic granulomatous inflammation**, particularly in tuberculosis and sarcoidosis. - They are formed by fusion of epithelioid macrophages with nuclei arranged in a **horseshoe or peripheral pattern**, not the central ring pattern of Touton cells. - These cells are associated with cell-mediated immune responses to infections or foreign material, not lipid storage disorders.

Q: Agarose gel electrophoresis from DNA of a population of cells as seen under ultraviolet light is shown below. What is the correct explanation for the finding seen in the band labeled as "C"?

Apoptotic cells. ***Apoptotic cells*** - Band C shows a characteristic **DNA ladder pattern** with discrete bands representing fragmentation into nucleosome-sized units (multiples of ~180-200 base pairs), which is pathognomonic of **apoptosis**. [1] - During apoptosis, **endonucleases** cleave DNA at internucleosomal linker regions, creating uniform fragments that migrate as distinct bands on agarose gel electrophoresis. *Predominantly necrotic cells* - **Necrotic cell DNA** undergoes random, non-specific degradation by cellular enzymes, resulting in a continuous **smear pattern** rather than discrete bands. - The **smear appearance** reflects DNA fragments of varying sizes distributed throughout the gel, unlike the organized pattern seen in band C. *Mixed population of normal and apoptotic cells* - A mixed population would show both **intact high molecular weight DNA** (remaining near the gel origin) and the **apoptotic ladder pattern** superimposed. - Band C displays a pure ladder pattern without evidence of intact DNA, indicating a homogeneous apoptotic population. *A population of viable cells* - **Viable cells** maintain intact genomic DNA that remains as a single **high molecular weight band** near the top of the gel. - The **fragmented ladder pattern** in band C is incompatible with viable cell DNA, which should show minimal degradation. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 63-64.

Q: An 80-year-old Parkinsonism patient died due to pneumonia. All are true about the heart histopathology slide except:

Positive Acid fast staining. ***Positive Acid fast staining*** - **Lipofuscin**, the pigment associated with brown atrophy and seen in aging hearts, does **not** stain positive with **Acid-fast stain**. - Acid-fast staining is typically used to identify **mycobacteria** (e.g., *Mycobacterium tuberculosis*) due to their mycolic acid content in the cell wall. *Peri-lysosomal location pigment* - **Lipofuscin** is an "wear-and-tear" pigment that accumulates within the **lysosomes** of cells, particularly in long-lived post-mitotic cells like cardiac myocytes [1]. - Its accumulation is a hallmark of cellular aging and is found in a **peri-lysosomal** distribution [1]. *Golden Brown pigment* - **Lipofuscin** characteristically appears as a **golden-brown** granular pigment under light microscopy [1]. - This color is due to its complex lipid and protein composition, resulting from the oxidation of unsaturated lipids and proteins. *Seen in Brown atrophy* - The accumulation of **lipofuscin** in cardiac myocytes, combined with a reduction in cell size (atrophy), leads to the gross appearance of the heart as smaller and brownish, a condition known as **brown atrophy**. - This is a common finding in the hearts of elderly individuals or those with chronic wasting diseases. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, p. 75.

Q: Identify the intracellular hyaline body.

Russell bodies. ***Russell bodies*** - The image depicts **plasma cells** containing large, eosinophilic, and homogenous cytoplasmic inclusions, which are characteristic features of **Russell bodies**. - These bodies represent an accumulation of **excess immunoglobulins** within the dilated cisternae of the endoplasmic reticulum in plasma cells [1]. *Corpora amylacea* - These are small, concentrically layered, usually **basophilic bodies** found extracellularly in the prostate, brain, and lung. - They are composed of glycoproteins and often increase with age, not directly seen here as intracellular hyaline bodies in plasma cells. *Hyaline droplets* - These are typically **intracellular protein reabsorption droplets** found in epithelial cells, particularly renal tubular cells, when there is excessive proteinuria [1]. - They are generally smaller and more uniformly distributed compared to Russell bodies and are not pathognomonic for plasma cells. *Mallory Hyaline bodies* - Also known as Mallory bodies, these are **eosinophilic, rope-like cytoplasmic inclusions** found in the hepatocytes of patients with alcoholic liver disease or certain other liver conditions [1]. - They are composed of intermediate filaments and are distinct from the immunoglobulin inclusions seen in plasma cells. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 73-74.

Q: Identify the structure marked in the image of cardiac myocyte. (AIIMS Nov 2018)

Lipofuscin granules. ***Lipofuscin granules*** - The image displays electron-dense, irregular structures, characteristic of **lipofuscin granules**, which are wear-and-tear pigments accumulating in aging cardiac myocytes. - They are typically located near the nucleus and appear dark due to their complex lipid-protein composition. *Lysosomes* - Lysosomes are typically smaller, more uniformly shaped, and contain hydrolytic enzymes, which is not clearly depicted. - While involved in cellular waste breakdown, they do not typically accumulate as large, intensely electron-dense, irregular aggregates like those shown. *Phagolysosome* - A phagolysosome forms when a phagosome fuses with a lysosome, containing engulfed material often of foreign or cellular debris origin. - The image does not show evidence of recently engulfed material or the typical morphology of a phagocytic vesicle. *Inflammasome* - An inflammasome is a multi-protein intracellular complex involved in the inflammatory response, not a visibly distinct organelle with this characteristic electron microscopic appearance. - It is a signaling platform, not a storage granule, and would not appear as dense, granular deposits in a routine electron micrograph.

Q: Ischemia-Reperfusion syndrome is characterized by:

Hypoxia and activation of inflammation. **Hypoxia and activation of inflammation** - **Ischemia-reperfusion injury** occurs when blood flow is restored to tissues previously deprived of oxygen, leading to further damage due to the rapid influx of oxygen and inflammatory mediators. - The initial **hypoxia** during ischemia triggers cellular changes, and subsequent reperfusion activates a robust **inflammatory response**, including the recruitment of neutrophils and the release of reactive oxygen species [1]. *Thrombo embolic angiopathy* - While thrombus formation can be a cause of ischemia, **thromboembolic angiopathy** itself is not the primary characteristic of the ischemia-reperfusion syndrome. - The syndrome's defining feature is the injury that occurs *after* the initial ischemic event, upon restoration of blood flow. *Build up of bicarbonate and Na+ ions* - Ischemia typically leads to a buildup of **lactic acid** and a decrease in pH (acidosis), not bicarbonate. - While electrolyte imbalances can occur, a specific buildup of bicarbonate and Na+ ions is not a hallmark characteristic of ischemia-reperfusion injury. *Acute mesenteric thrombosis* - **Acute mesenteric thrombosis** is a *cause* of mesenteric ischemia, not a general characteristic of the ischemia-reperfusion syndrome itself. - The syndrome describes the cellular and tissue injury that results from the initial ischemia and subsequent reperfusion, regardless of the underlying cause of ischemia. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, pp. 786-787.

Question 1

A 2-year-old child presents with growth retardation, pallor, bruising and has palpable spleen 5 cm below left costal margin. Bone marrow examination is shown below. Which is incorrect about the clinical diagnosis? (Recent NEET Pattern 2016-17)

Accepted Answer

Defect on chromosome 3

Answer

Glucosylceramide accumulation in reticulo-endothelial cells

Answer

Bleeding episodes

Answer

Erlenmeyer flask deformity of the distal femur

Question 2

Postmortem lung specimen of a patient who developed severe respiratory distress and petechiae after fracture of shaft of femur is given below. All are true about the condition except:

Accepted Answer

Diffuse white matter petechial hemorrhages

Answer

Noncardiogenic pulmonary edema

Answer

GURD criteria

Answer

Oil Red O stain for fat

Question 3

A 6-month-old child presents with loss of vision and regression of milestones. On examination hepatosplenomegaly and lymphadenopathy is seen. The bone marrow aspiration shows abnormal macrophage shown below. It stains positive for fat and negative for iron. Identify the cell.

Accepted Answer

Niemann-Pick cell

Answer

Gaucher cell

Answer

Hemosiderosis

Answer

Hallervorden-Spatz disease

Question 4

A 50-year-old patient with family history positive for premature coronary artery disease is found to have lumps on Achilles tendon. Biopsy from the lesion shows presence of:

Accepted Answer

Touton giant cell

Answer

Foam cell

Answer

Fatty streak

Answer

Langhan's giant cells

Question 5

A 22-year-old biker had a road traffic accident with bilateral tibia fracture. After 7 days, his condition suddenly worsens and leads to death. Pathological specimen is provided. What could be the likely cause of death?

Accepted Answer

Fat embolism

Answer

Septic shock

Answer

Pulmonary thromboembolism

Answer

Air embolism

Question 6

Agarose gel electrophoresis from DNA of a population of cells as seen under ultraviolet light is shown below. What is the correct explanation for the finding seen in the band labeled as "C"?

Accepted Answer

Apoptotic cells

Answer

Predominantly necrotic cells

Answer

Mixed population of normal and apoptotic cells

Answer

A population of viable cells

Question 7

An 80-year-old Parkinsonism patient died due to pneumonia. All are true about the heart histopathology slide except:

Accepted Answer

Positive Acid fast staining

Answer

Peri-lysosomal location pigment

Answer

Golden Brown pigment

Answer

Seen in Brown atrophy

Question 8

Identify the intracellular hyaline body.

Accepted Answer

Russell bodies

Answer

Corpora amylacea

Answer

Hyaline droplets

Answer

Mallory Hyaline bodies

Question 9

Identify the structure marked in the image of cardiac myocyte. (AIIMS Nov 2018)

Accepted Answer

Lipofuscin granules

Answer

Lysosomes

Answer

Phagolysosome

Answer

Inflammasome

Question 10

Ischemia-Reperfusion syndrome is characterized by:

Accepted Answer

Hypoxia and activation of inflammation

Answer

Thrombo embolic angiopathy

Answer

Build up of bicarbonate and Na+ ions

Answer

Acute mesenteric thrombosis

General Pathology — MCQs

General Pathology — MCQs

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