Nutritional Diseases — MCQs

10 questions

Dermatitis may be a clinical manifestation of deficiency states of all of the following nutrients except -

A 45-year-old patient presents with symptoms of anemia, depigmented hair, and myelopathy. Which of the following mineral deficiencies is most likely associated with this clinical presentation?

Deficiency of which element is specifically linked to the syndrome of growth failure, anemia, and hypogonadism?

A young patient started to take a weight loss medication that acts by inhibiting fat absorption from food. After a few weeks, she developed easy bruising and increased menstrual bleeding. Deficiency of which of the following vitamins is responsible for her condition?

A child was brought with pedal edema and cheilosis. Cardiomegaly was present. What is the vitamin deficiency associated with this clinical presentation?

Wernicke's encephalopathy is due to deficiency of:

An electron microscopy of muscle biopsy shows 'parking lot' appearance. Which additional finding would confirm myotonic dystrophy?

All are true about the marking X in histopathological specimen from a patient of fatty liver except:

Mitochondrial abnormalities are associated with which of the following conditions?

Q10

A 12-month-old girl of Punjabi parents developed pallor since 3 months of age. One unit of blood transfusion was done at 5 months of age. She now presents with pallor and hepatosplenomegaly. Her hemoglobin level is 3.8 g/dL, MCV is 68, and MCH is 19. A peripheral smear examination showed schistocytes, and bone marrow examination revealed erythroid hyperplasia. What is the diagnosis?

Nutritional Diseases Indian Medical PG Practice Questions and MCQs

Question 1: Dermatitis may be a clinical manifestation of deficiency states of all of the following nutrients except -

A. Biotin
B. Niacin
C. Pyridoxine
D. Thiamine (Correct Answer)

Explanation: ***Thiamine*** - A deficiency in **thiamine (vitamin B1)** primarily affects the nervous and cardiovascular systems, leading to conditions like **beriberi**, characterized by neuropathy, heart failure, and Wernicke-Korsakoff syndrome. - Dermatitis is **not a typical or direct clinical manifestation** of thiamine deficiency. *Biotin* - **Biotin (vitamin B7)** deficiency can cause **dermatitis**, often described as a scaly, erythematous rash around the eyes, nose, and mouth. - Hair loss (**alopecia**) and **neurological symptoms** are also associated with biotin deficiency. *Niacin* - **Niacin (vitamin B3)** deficiency leads to **pellagra**, classically presenting with the "3 Ds": **dermatitis**, **diarrhea**, and **dementia**. - The dermatitis in pellagra is typically symmetrical and photosensitive, affecting sun-exposed areas. *Pyridoxine* - **Pyridoxine (vitamin B6)** deficiency can result in **seborrheic dermatitis-like rash**, especially around the eyes, nose, and mouth. - Other symptoms include **glossitis**, **cheilosis**, and **neurological disturbances** like peripheral neuropathy.

Question 2: A 45-year-old patient presents with symptoms of anemia, depigmented hair, and myelopathy. Which of the following mineral deficiencies is most likely associated with this clinical presentation?

A. Copper (Correct Answer)
B. Iron
C. Fluoride
D. Zinc
E. Selenium

Explanation: ***Copper*** - **Copper deficiency** can lead to anemia due to its role in iron metabolism, **depigmented hair** (achromotrichia) due to impaired melanin synthesis, and **myelopathy** due to its involvement in maintaining the myelin sheath. - Symptoms often mimic those of **vitamin B12 deficiency**, including neurological manifestations like ataxia and spasticity. *Iron* - **Iron deficiency** is the most common cause of anemia but does not typically cause **depigmented hair** or **myelopathy**. - Its neurological symptoms are usually limited to **restless legs syndrome** and **pica**, not demyelination. *Fluoride* - **Fluoride deficiency** is primarily associated with an increased risk of dental caries and does not cause anemia, hair depigmentation, or myelopathy. - Excessive intake (fluorosis) can lead to **bone and tooth abnormalities**. *Zinc* - **Zinc deficiency** can cause immune dysfunction, **dermatitis**, impaired wound healing, and growth retardation. - It may rarely cause anemia in severe cases but does not typically cause hair depigmentation or myelopathy as primary symptoms. *Selenium* - **Selenium deficiency** is associated with **Keshan disease** (cardiomyopathy) and **Kashin-Beck disease** (osteoarthropathy). - While it can cause muscle weakness and fatigue, it does not typically present with the specific triad of anemia, hair depigmentation, and myelopathy seen in copper deficiency.

Question 3: Deficiency of which element is specifically linked to the syndrome of growth failure, anemia, and hypogonadism?

A. Calcium
B. Copper
C. Zinc (Correct Answer)
D. Magnesium

Explanation: ***Zinc*** - **Zinc deficiency** is classically associated with **growth retardation**, **anemia**, **hypogonadism**, and impaired immune function due to its role in numerous enzymatic processes and DNA synthesis. - It plays a crucial role in **cellular growth**, development, and endocrine function, making its deficiency particularly impactful on these systems. *Calcium* - **Calcium deficiency** primarily leads to **bone demineralization** (osteoporosis or osteomalacia), tetany, and muscle cramps. - While essential for growth, it is not specifically linked to the triad of **anemia** and **hypogonadism** in the same manner as zinc. *Copper* - **Copper deficiency** can cause **anemia** (microcytic, unresponsive to iron), **neurological dysfunction** (myelopathy), and impaired immune function. - However, it is not typically associated with prominent **growth failure** and **hypogonadism** as a primary triad of symptoms. *Magnesium* - **Magnesium deficiency** can lead to **neuromuscular hyperexcitability** (tetany, spasms), cardiac arrhythmias, and fatigue. - It does not commonly present with the distinct combination of **growth failure**, **anemia**, and **hypogonadism**.

Question 4: A young patient started to take a weight loss medication that acts by inhibiting fat absorption from food. After a few weeks, she developed easy bruising and increased menstrual bleeding. Deficiency of which of the following vitamins is responsible for her condition?

A. Vitamin E
B. Vitamin K (Correct Answer)
C. Vitamin B6
D. Vitamin D

Explanation: ***Vitamin K*** - The patient is taking a **weight-loss medication** that **inhibits fat absorption**, leading to a deficiency in **fat-soluble vitamins**, including vitamin K. - **Vitamin K** is crucial for the synthesis of **coagulation factors** (II, VII, IX, X), and its deficiency leads to impaired clotting, manifesting as **easy bruising** and **increased menstrual bleeding**. *Vitamin E* - While vitamin E is a fat-soluble vitamin, its deficiency typically causes **neurological dysfunction** and **hemolytic anemia**, not bleeding diathesis. - Although malabsorption of vitamin E can occur with fat malabsorption, it does not directly explain the bleeding symptoms observed. *Vitamin B6* - Vitamin B6 is a **water-soluble vitamin**, so its absorption would not be directly affected by a medication inhibiting fat absorption. - Its deficiency can cause **neuropathy**, **dermatitis**, and **anemia**, but not increased bleeding. *Vitamin D* - Vitamin D is a **fat-soluble vitamin** whose deficiency is associated with **bone disorders** like **osteomalacia** and **rickets**, not bleeding. - While its absorption would be impacted by the medication, its deficiency would not cause easy bruising or increased menstrual bleeding.

Question 5: A child was brought with pedal edema and cheilosis. Cardiomegaly was present. What is the vitamin deficiency associated with this clinical presentation?

A. Riboflavin deficiency
B. Thiamine deficiency (Correct Answer)
C. Pyridoxine deficiency
D. Niacin deficiency

Explanation: ***Thiamine deficiency*** - The combination of **pedal edema** and **cardiomegaly** suggests **wet beriberi**, which is caused by **thiamine (vitamin B1) deficiency**. - **Cheilosis** (cracking at the corners of the mouth) is also a feature that can be seen in various vitamin deficiencies, but the cardiac involvement is highly indicative of thiamine deficiency. *Riboflavin deficiency* - **Riboflavin (vitamin B2) deficiency** is characterized by **cheilosis**, glossitis, angular stomatitis, and seborrheic dermatitis. - It typically does not cause **cardiomegaly** or significant **pedal edema** without other concurrent nutritional deficiencies. *Pyridoxine deficiency* - **Pyridoxine (vitamin B6) deficiency** primarily manifests as **dermatitis**, **microcytic anemia**, and neurological symptoms like **peripheral neuropathy** and **seizures**. - It is not typically associated with **pedal edema** or **cardiomegaly**. *Niacin deficiency* - **Niacin (vitamin B3) deficiency** causes **pellagra**, characterized by the "3 Ds": **dermatitis**, **diarrhea**, and **dementia**. - While it can manifest with systemic issues, it does not typically present with the prominent **cardiomegaly** and **pedal edema** seen in this case.

Question 6: Wernicke's encephalopathy is due to deficiency of:

A. B6
B. Thiamine (Correct Answer)
C. B12
D. Niacin

Explanation: ***Thiamine*** - **Wernicke's encephalopathy** is a serious neurological disorder directly caused by a severe deficiency of **thiamine (vitamin B1)**. - Thiamine is crucial for **glucose metabolism** in the brain; its deficiency impairs energy production, leading to neuronal damage and the characteristic symptoms of confusion, ataxia, and ophthalmoplegia. *B6* - Deficiency of **vitamin B6 (pyridoxine)** can cause peripheral neuropathy, seizures, and microcytic anemia. - It is not the primary cause of the acute neurological syndrome seen in Wernicke's encephalopathy. *B12* - Deficiency of **vitamin B12 (cobalamin)** is associated with megaloblastic anemia and subacute combined degeneration of the spinal cord. - While it can cause neurological symptoms, they differ from the specific triad of Wernicke's encephalopathy. *Niacin* - Deficiency of **niacin (vitamin B3)** causes **pellagra**, characterized by dermatitis, diarrhea, and dementia. - Although it involves neurological symptoms (dementia), the presentation is distinct from Wernicke's encephalopathy.

Question 7: An electron microscopy of muscle biopsy shows 'parking lot' appearance. Which additional finding would confirm myotonic dystrophy?

A. Ragged red fibers
B. Ring fibers (Correct Answer)
C. Central cores
D. Nemaline rods

Explanation: ***Ring fibers*** - **Ring fibers** are a classic histopathological feature seen in **myotonic dystrophy**, characterized by peripheral myofibrils arranged circularly around a central core [1]. - The "parking lot" appearance on electron microscopy refers to collections of **sarcoplasmic reticulum** and **T-tubules**, which can be seen in various myopathies but are often prominent in myotonic dystrophy, complementing the presence of ring fibers [1]. *Ragged red fibers* - **Ragged red fibers** are characteristic of **mitochondrial myopathies**, indicating abnormal proliferation of mitochondria beneath the sarcolemma. - They are typically identified with **Gomori trichrome stain** and are not a feature of myotonic dystrophy. *Central cores* - **Central cores** are a hallmark of **central core disease**, a congenital myopathy, and are regions within muscle fibers where oxidative enzyme activity is absent. - These are not typically associated with myotonic dystrophy; rather, they suggest a different underlying genetic defect affecting muscle structure. *Nemaline rods* - **Nemaline rods** are rod-like inclusions observed in muscle fibers in **nemaline myopathy**, an inherited disorder often associated with mutations in genes encoding components of the thin filament. - They are distinct from the pathological findings in myotonic dystrophy and point to a specific type of congenital myopathy. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 732-733.

Question 8: All are true about the marking X in histopathological specimen from a patient of fatty liver except:

A. Eosinophilic aggregates of prekeratin
B. Intranuclear inclusions (Correct Answer)
C. Best visualized with masson trichrome
D. Also seen in Indian childhood cirrhosis

Explanation: ***Best visualized with masson trichrome*** - The marking 'X' refers to **Mallory bodies** (also known as Mallory's hyaline or alcoholic hyaline) [1]. - Mallory bodies are **eosinophilic cytoplasmic inclusions** and are best visualized with **hematoxylin and eosin (H&E) stain**, not Masson trichrome. Masson trichrome is used to highlight **collagen** (fibrosis) [2]. *Eosinophilic aggregates of prekeratin* - Mallory bodies are indeed **eosinophilic aggregates** composed primarily of **intermediate filaments**, including **prekeratin** (cytokeratin 8 and 18) [3]. - This description accurately characterizes the composition and staining properties of Mallory bodies. *Intranuclear inclusions* - Mallory bodies are **cytoplasmic inclusions**, not intranuclear [1][3]. - Intranuclear inclusions are typically associated with viral infections (e.g., CMV, herpes) or certain genetic disorders. *Also seen in Indian childhood cirrhosis* - Mallory bodies are a characteristic feature of **alcoholic liver disease** but can also be found in other conditions, including **non-alcoholic steatohepatitis (NASH)**, **Wilson's disease**, **cholestasis**, and **Indian childhood cirrhosis** [1]. - Their presence in Indian childhood cirrhosis is a known histopathological finding. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Liver And Biliary System Disease, pp. 388-389. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Liver and Gallbladder, pp. 848-850. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Liver and Gallbladder, p. 852.

Question 9: Mitochondrial abnormalities are associated with which of the following conditions?

A. Krabbe's disease
B. Fabry disease
C. Leigh syndrome (Correct Answer)
D. Fanconi syndrome

Explanation: ***Fanconi syndrome*** - Fanconi syndrome is associated with **renal tubular dysfunction**, leading to **metabolic acidosis** and hypophosphatemia, often showing mitochondrial abnormalities [1]. - It can be linked to certain **toxins and genetic disorders**, affecting mitochondrial function, particularly in the context of renal cells. *Fanconi syndrome* - This option is a repeat and should not be considered separately; the proper acknowledgment of Fanconi syndrome is included in the correct answer. - The condition itself is not missed but stated correctly under the correct answer. *Krabbe's disease* - Krabbe's disease primarily involves **galactocerebrosidase deficiency** and affects the central nervous system, not primarily linked to mitochondrial dysfunction [2]. - It presents with **neuropathy**, **global developmental delay**, and **progressive weakness**, which are distinct from mitochondrial disorders. *Fabry disease* - Fabry disease is caused by **alpha-galactosidase A deficiency**, leading to lysosomal accumulation, primarily affecting **vascular and renal systems**. - Mitochondrial dysfunction is not a primary feature, making it distinguishable from mitochondrial abnormalities. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Peripheral Nerves and Skeletal Muscles, pp. 1246-1247. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1304-1305.

Question 10: A 12-month-old girl of Punjabi parents developed pallor since 3 months of age. One unit of blood transfusion was done at 5 months of age. She now presents with pallor and hepatosplenomegaly. Her hemoglobin level is 3.8 g/dL, MCV is 68, and MCH is 19. A peripheral smear examination showed schistocytes, and bone marrow examination revealed erythroid hyperplasia. What is the diagnosis?

A. Alpha-thalassemia
B. Sickle cell disease
C. Glucose-6-phosphate dehydrogenase deficiency
D. Beta-thalassemia (major) (Correct Answer)

Explanation: ***Beta-thalassemia (major)*** - The combination of **severe microcytic hypochromic anemia** (Hb 3.8 g/dL, MCV 68, MCH 19), early onset of pallor, **hepatosplenomegaly**, and **erythroid hyperplasia** with a need for transfusions is highly characteristic of **beta-thalassemia major** [1]. - The presence of **schistocytes** on peripheral smear indicates significant ineffective erythropoiesis and hemolysis, which is common in severe thalassemias due to the precipitation of unstable globin chains [1]. *Sickle cell disease* - This condition is characterized by **sickle-shaped red blood cells** and recurrent painful vaso-occlusive crises, which are not mentioned in the presentation, and the peripheral smear showed schistocytes, not sickled cells [1]. - While it can cause anemia, the **MCV is typically normal to high**, unlike the microcytosis seen here. *Alpha-thalassemia* - Severe forms like **Hb Barts hydrops fetalis** usually present *in utero* or at birth with massive edema and profound anemia, and are often fatal [1]. - Less severe forms might cause microcytic anemia, but **hepatosplenomegaly and severe transfusion dependence from 3 months of age** are more typical of beta-thalassemia major [1]. *Glucose-6-phosphate dehydrogenase deficiency* - This condition typically presents with **acute hemolytic anemia** triggered by certain drugs, infections, or fava beans, rather than chronic severe anemia and hepatosplenomegaly from early infancy. - Peripheral smear would show **bite cells** and **Heinz bodies** during a hemolytic episode, not schistocytes as the primary finding. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 644-650.

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