General Pathology Practice Questions

Q: A 48-year-old lady presented with bone pains and hepatosplenomegaly. On examination of a biopsy specimen from the spleen, a 'crumpled tissue paper' appearance was seen. What substance has likely accumulated?

Glucocerebroside. ### Explanation The clinical presentation of bone pain, hepatosplenomegaly, and the pathognomonic **"crumpled tissue paper"** appearance of macrophages (Gaucher cells) points directly to **Gaucher Disease**. **1. Why Glucocerebroside is correct:** Gaucher disease is the most common lysosomal storage disorder, caused by a deficiency of the enzyme **Glucocerebrosidase** (Acid $eta$-glucosidase). This deficiency leads to the accumulation of **Glucocerebroside** within the lysosomes of macrophages. These lipid-laden macrophages develop a fibrillar, striated cytoplasm resembling crumpled tissue paper or wrinkled silk, primarily involving the bone marrow, spleen, and liver. **2. Why the other options are incorrect:** * **Sphingomyelin:** Accumulates in **Niemann-Pick Disease** due to sphingomyelinase deficiency. Histology typically shows "foam cells" (vacuolated macrophages) rather than a crumpled appearance. * **Sulfatide:** Accumulates in **Metachromatic Leukodystrophy** due to Arylsulfatase A deficiency. It presents with central and peripheral demyelination, not hepatosplenomegaly with crumpled tissue cells. * **Gangliosides:** Accumulate in **Tay-Sachs Disease** ($GM_2$ ganglioside). This presents with a cherry-red spot on the macula and neurodegeneration, but notably lacks hepatosplenomegaly. **3. High-Yield Clinical Pearls for NEET-PG:** * **Gaucher Disease:** Most common lysosomal storage disorder; Autosomal Recessive. * **Radiology:** Look for the **"Erlenmeyer flask deformity"** of the distal femur. * **Biomarker:** Elevated serum **Chitotriosidase** levels are used for monitoring. * **Treatment:** Enzyme Replacement Therapy (ERT) with Recombinant Glucocerebrosidase (Imiglucerase).

Q: Which type of necrosis is typically seen in acute pancreatitis?

Fat necrosis. **Explanation:** **Fat necrosis** is the hallmark of acute pancreatitis [1]. This process occurs due to the premature activation of pancreatic enzymes, specifically **lipases**, which are released into the peripancreatic tissue and the peritoneal cavity. These enzymes break down triglycerides into free fatty acids. These fatty acids then combine with calcium ions in a process called **saponification**, forming chalky white, soap-like deposits that are macroscopically visible [1]. **Analysis of Incorrect Options:** * **Coagulative necrosis:** This is the most common type of necrosis, typically seen in hypoxic/ischemic injury in solid organs (e.g., myocardial infarction), except the brain. It preserves the basic structural outline of the tissue for a few days. * **Liquefactive necrosis:** Characterized by the digestion of dead cells into a liquid viscous mass. It is typically seen in bacterial/fungal infections and **ischaemic injury to the brain**. (Note: While the pancreatic parenchyma itself may undergo liquefaction, "Fat Necrosis" is the classic descriptor for the condition). * **Fibrinoid necrosis:** Usually seen in immune-mediated vascular damage (e.g., Polyarteritis Nodosa or malignant hypertension) where complexes of antigens and antibodies are deposited in arterial walls. **High-Yield Clinical Pearls for NEET-PG:** * **Microscopic appearance:** Fat necrosis shows shadowy outlines of necrotic adipocytes with basophilic (bluish) calcium deposits [1]. * **Saponification:** The "chalky white" appearance is a classic gross pathology description [1]. * **Clinical Correlation:** In acute pancreatitis, the degree of **hypocalcemia** (due to calcium being "consumed" during saponification) is a key prognostic indicator used in Ranson’s Criteria. **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. 55.

Q: A couple is referred to the physician because their first three pregnancies have ended in spontaneous abortion. Chromosomal analysis reveals that the wife has two cell lines in her blood, one with a missing X chromosome (45,X) and the other normal (46,XX). Her chromosomal constitution can be described as?

Mosaic. ### Explanation **Correct Option: D. Mosaic** **Mosaicism** is defined as the presence of two or more populations of cells with different genotypes in one individual who has developed from a **single fertilized egg (zygote)** [1]. In this case, the wife has two cell lines (45,X and 46,XX) originating from the same zygote. This typically occurs due to **post-zygotic mitotic non-disjunction** or anaphase lag during early embryonic development [1]. Mosaic Turner syndrome (45,X/46,XX) often presents with a milder phenotype than classic Turner syndrome (45,X), allowing for secondary sexual characteristics and, occasionally, the ability to conceive, though it is a known cause of recurrent spontaneous abortions. **Why Incorrect Options are Wrong:** * **A. Chimeric:** Chimerism involves two or more cell lines derived from **different zygotes** (e.g., the fusion of two embryos or exchange of cells between twins in utero). * **B. Monoploid:** This refers to a cell or organism having a single set of chromosomes (n). In humans, only gametes are monoploid. * **C. Trisomic:** This refers to the presence of an extra chromosome (e.g., Trisomy 21). The patient in the question has a cell line with a missing chromosome (monosomy), not an extra one. **High-Yield Clinical Pearls for NEET-PG:** * **Mechanism:** Mosaicism results from **post-zygotic** errors; Chimerism results from **fusion** of different zygotes. * **Germline Mosaicism:** If a mutation occurs in a germ cell precursor, the individual is phenotypically normal but can pass the mutation to multiple offspring (e.g., Osteogenesis Imperfecta, Duchenne Muscular Dystrophy). * **Turner Syndrome:** 45,X/46,XX is the most common mosaic pattern in Turner syndrome [1]. These patients have a higher risk of premature ovarian failure and recurrent pregnancy loss. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 168-169.

Question 1

Which of the following is NOT a cause of congenital hypercoagulability?

Accepted Answer

Antiphospholipid antibody syndrome

Answer

Protein C deficiency

Answer

Protein S deficiency

Answer

MTHFR gene mutations

Question 2

Which of the following is NOT a feature of antiphospholipid antibody syndrome?

Accepted Answer

Bleeding disorder

Answer

Recurrent fetal loss

Answer

Thrombotic disorder

Answer

Coagulation disorder

Question 3

Gingival biopsy is used for the diagnosis of which of the following conditions?

Accepted Answer

Amyloidosis

Answer

Scurvy

Answer

Sarcoidosis

Answer

Systemic Lupus Erythematosus (SLE)

Question 4

A 48-year-old lady presented with bone pains and hepatosplenomegaly. On examination of a biopsy specimen from the spleen, a 'crumpled tissue paper' appearance was seen. What substance has likely accumulated?

Accepted Answer

Glucocerebroside

Answer

Sphingomyelin

Answer

Sulfatide

Answer

Gangliosides

Question 5

Which of the following is not a feature of red infarction?

Accepted Answer

Occurs in solid organs

Answer

Venous occlusion

Answer

Occurs in organs having dual circulation

Answer

Occurs in previously congested tissues

Question 6

Which type of necrosis is typically seen in acute pancreatitis?

Accepted Answer

Fat necrosis

Answer

Coagulative necrosis

Answer

Liquefactive necrosis

Answer

Fibrinoid necrosis

Question 7

Which of the following is seen in both apoptosis and necrosis?

Accepted Answer

Both may be pathological

Answer

Both may be physiological

Answer

Inflammation

Answer

Intact cell membrane

Question 8

A couple is referred to the physician because their first three pregnancies have ended in spontaneous abortion. Chromosomal analysis reveals that the wife has two cell lines in her blood, one with a missing X chromosome (45,X) and the other normal (46,XX). Her chromosomal constitution can be described as?

Accepted Answer

Mosaic

Answer

Chimeric

Answer

Monoploid

Answer

Trisomic

Question 9

Secondary amyloidosis complicates which of the following?

Accepted Answer

Chronic osteomyelitis

Answer

Pneumonia

Answer

Chronic glomerulonephritis

Answer

Osteosarcoma

Question 10

A 12-year-old boy is rescued 2 days after becoming lost in the woods in February. Physical examination shows he has gangrene of his fingers and toes. Which of the following mechanisms of cell injury played the most important role in mediating necrosis in the fingers and toes of this patient?

Accepted Answer

Membrane disruption by water crystals

Answer

Activation of proapoptotic proteins

Answer

Generation of activated oxygen species

Answer

Lipid peroxidation

General Pathology — MCQs

General Pathology — MCQs

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