Clinical Manifestations and Presentation of Diseases — MCQs

A chronic smoker presents with mild haemoptysis, and also reports a history of hypertension and obesity. Laboratory data reveal raised ACTH levels that are not suppressed by dexamethasone, leading to a diagnosis of Cushing's syndrome. Which of the following is the cause of Cushing's syndrome in this patient?

Clinical Manifestations and Presentation of Diseases Indian Medical PG Practice Questions and MCQs

Question 301: Which of the following is not typically associated with cystic fibrosis?

A. Infertility
B. Azoospermia
C. Nasal polyps
D. Renal failure (Correct Answer)

Explanation: ***Renal failure*** - **Renal failure** is not a typical manifestation or complication of **cystic fibrosis (CF)**. The CFTR protein primarily affects epithelial cells in organs like the lungs, pancreas, liver, and intestines, not the kidneys. - While CF patients may experience **electrolyte imbalances** due to excessive salt loss, this rarely progresses to **kidney failure** as a direct result of the disease itself. *Infertility* - **Infertility** is commonly associated with CF, particularly in males due to **congenital bilateral absence of the vas deferens (CBAVD)**, which is found in over 95% of male CF patients [1]. - In females, CF can cause **viscous cervical mucus** and nutritional deficiencies, leading to challenges with conception [1]. *Azoospermia* - **Azoospermia**, specifically **obstructive azoospermia**, is a direct consequence of **congenital bilateral absence of the vas deferens (CBAVD)**, which is highly prevalent in male CF patients [1]. - This condition prevents sperm from reaching the ejaculate, despite normal sperm production in the testes. *Nasal polyps* - **Nasal polyps** are a common feature in patients with **cystic fibrosis**, often leading to **chronic rhinosinusitis** and nasal obstruction. - This is due to the dysfunctional CFTR protein leading to abnormal mucus production and inflammation in the nasal passages [1].

Question 302: Which of the following is the most characteristic symptom of obstruction of the inferior vena cava?

A. Paraumblical dilatation (Correct Answer)
B. Thoraco-epigastric dilatation
C. Haemorrhoides
D. Oesophageal varices

Explanation: ***Paraumbilical dilatation*** - Obstruction of the **inferior vena cava (IVC)** leads to collateral circulation through superficial veins, especially around the umbilicus, causing **paraumbilical dilatation** (caput medusae). - This collateral flow bypasses the obstructed IVC to return blood to the superior vena cava system. *Thoraco-epigastric dilatation* - This pattern of collateral circulation is more characteristic of **superior vena cava (SVC) obstruction**, where blood from the upper body needs to bypass the SVC. - The dilated veins would typically be seen on the chest and upper abdomen, draining towards the femoral veins. *Oesophageal varices* - **Oesophageal varices** are typically caused by **portal hypertension** [1], often secondary to liver cirrhosis, not directly by IVC obstruction. - They represent portosystemic collateral veins, diverging from the portal system to the systemic circulation [1]. *Haemorrhoids* - **Haemorrhoids** are dilated veins in the anal canal, most commonly caused by **straining** during defecation or conditions that increase intra-abdominal pressure [2]. - While they can be a sign of portal hypertension [1], **IVC obstruction** is not their primary or most characteristic cause.

Question 303: Carney triad consists of:

A. Gastric leiomyoma, pulmonary hamartoma, adrenal adenoma
B. Gastric adenocarcinoma, bronchial carcinoid, pheochromocytoma
C. Gastric GIST, pulmonary chondroma, extra-adrenal paraganglioma (Correct Answer)
D. Gastric lymphoma, pulmonary fibrosis, adrenal cortical carcinoma

Explanation: ***Gastric GIST, pulmonary chondroma, extra-adrenal paraganglioma*** - Carney triad is a rare syndrome characterized by the simultaneous occurrence of three distinct tumors: **gastric gastrointestinal stromal tumor (GIST)**, **pulmonary chondroma**, and **extra-adrenal paraganglioma**. - This specific combination of tumors defines the triad, making this option the correct identification. *Gastric leiomyoma, pulmonary hamartoma, adrenal adenoma* - While gastric leiomyoma is a benign tumor of smooth muscle, it is generally considered a precursor of GIST, but **GIST** is the specific component of the triad. - **Pulmonary hamartoma** and **adrenal adenoma** are not the specific components of Carney triad. *Gastric adenocarcinoma, bronchial carcinoid, pheochromocytoma* - **Gastric adenocarcinoma** is a malignant epithelial tumor, not a mesenchymal tumor like GIST. - A **bronchial carcinoid** is a neuroendocrine tumor, and while **pheochromocytoma** is an adrenal form of paraganglioma, the triad specifically refers to **extra-adrenal paraganglioma** and **pulmonary chondroma**. *Gastric lymphoma, pulmonary fibrosis, adrenal cortical carcinoma* - **Gastric lymphoma** is a lymphoid malignancy, distinct from GIST [1]. - **Pulmonary fibrosis** is a lung disease characterized by scarring and not a tumor. **Adrenal cortical carcinoma** is a malignant tumor of the adrenal cortex, not a feature of Carney triad.

Question 304: A young male patient presenting with LDL of 600 mg/dl and triglycerides of 160 mg/dl would most likely exhibit what finding on physical examination?

A. Tendon xanthoma (Correct Answer)
B. Lipemia retinalis
C. Eruptive tuberous xanthomas
D. Xanthelasma

Explanation: ***Tendon xanthoma*** - Markedly elevated **LDL (600 mg/dL)** with relatively normal triglycerides is characteristic of **familial hypercholesterolemia**, a condition frequently associated with **tendon xantomas**. [1] - **Tendon xanthomas** are cholesterol deposits commonly found in the Achilles tendons or extensor tendons of the hands due to chronic hypercholesterolemia. [1] *Lipemia retinalis* - **Lipemia retinalis** occurs when triglyceride levels are extremely high, typically above **1,000 mg/dL**, causing a whitish appearance of retinal blood vessels. [1] - The patient's triglyceride level of **160 mg/dL** is within the normal range and would not lead to lipemia retinalis. *Eruptive tuberous xanthomas* - **Eruptive tuberous xanthomas** are associated with very high triglyceride levels, often seen in severe **hypertriglyceridemia** (e.g., genetic lipoprotein lipase deficiency) or poorly controlled diabetes. - These are typically small, reddish-yellow papules appearing suddenly on extensor surfaces, which is not indicated by the patient's normal triglyceride level. *Xanthelasma* - **Xanthelasma** are yellowish plaques that occur on the eyelids, and while associated with hyperlipidemia, they are not specific to the severity or type of dyslipidemia presented. - They are more common in older adults and can occur even with normal lipid levels, making them less indicative of the specific lipid profile mentioned.

Question 305: Which of the following is a characteristic symptom of Henoch-Schönlein Purpura?

A. Purpuric rash on buttocks and legs
B. Gastrointestinal bleeding (Correct Answer)
C. Low platelet count
D. Bleeding in the brain

Explanation: ***Gastrointestinal bleeding*** - **Gastrointestinal symptoms**, including bleeding, are common in **Henoch-Schönlein Purpura (HSP)** due to **IgA deposition** in the gut vasculature, leading to inflammation and hemorrhage. - Patients may experience colicky abdominal pain, nausea, vomiting, and bloody stools. *Low platelet count* - HSP is primarily a **vasculitis**, not a primary platelet disorder; therefore, patients typically have a **normal platelet count** [1]. - **Thrombocytopenia** would suggest a different diagnosis, such as **idiopathic thrombocytopenic purpura (ITP)** or another coagulation disorder. *Bleeding in the brain* - While a very rare complication, **intracranial hemorrhage** is not a characteristic or common symptom of HSP. - Most bleeding manifestations in HSP are related to the **skin**, **gut**, and sometimes **kidneys**. *Purpuric rash on buttocks and legs* - A **palpable purpuric rash** on the **buttocks and lower extremities** is indeed a hallmark symptom of HSP, but it is a skin manifestation, not a type of bleeding, and the question asks about a characteristic bleeding symptom. - This rash results from **leukocytoclastic vasculitis** with **IgA deposition** in small blood vessels [1].

Question 306: Which of the following conditions is least likely to cause pruritus?

A. Uraemia
B. Polycythemia rubra vera
C. Hyperthyroidism
D. Hyperparathyroidism (Correct Answer)

Explanation: ***Hyperparathyroidism*** - While hyperparathyroidism can cause some **non-specific symptoms** like bone pain and weakness, **pruritus is not a typical** or common direct symptom associated with it [2]. - The elevated **calcium** and **parathyroid hormone** levels do not directly induce the sensation of itching in most patients [3]. *Polycythemia rubra vera* - This myeloproliferative disorder is well-known for causing **aquagenic pruritus**, which is itching that occurs after contact with water [1]. - The pruritus is thought to be mediated by **histamine release** from an increased mast cell burden. *Uraemia* - **Chronic kidney disease**, especially in its advanced stages leading to uraemia, frequently causes **uraemic pruritus** [1]. - This itching is often severe, generalized, and can significantly impact the patient's **quality of life**, thought to be due to accumulation of toxins. *Hyperthyroidism* - Hyperthyroidism can lead to generalized **pruritus** due to increased **cutaneous blood flow**, elevated skin temperature, and changes in metabolic rates [1]. - The increased metabolic activity and vasodilation can contribute to **skin irritation** and itching.

Question 307: Mask-like appearance of the face, narrowing of the aperture, and rigidity of the mucosa are characteristic of:

A. Progressive systemic sclerosis (Correct Answer)
B. Tetanus
C. Multiple sclerosis
D. Osteomalacia

Explanation: ### Progressive systemic sclerosis - This condition is characterized by **fibrosis** of the skin and internal organs, leading to the **mask-like appearance** of the face due to skin tightening [1]. - The **narrowing of the oral aperture** (microstomia) and **rigidity of the oral mucosa** are also common manifestations due to collagen deposition [1]. *Tetanus* - Tetanus causes muscle spasms and rigidity, notably **trismus** (lockjaw) which is a forceful closing of the jaw, not a narrowing of the opening itself. - It does not cause a mask-like facial appearance or characteristic mucosal rigidity but rather strong, painful muscle contractions. *Multiple sclerosis* - This is a **demyelinating disease** affecting the central nervous system, leading to neurological symptoms like motor weakness, sensory disturbances, and vision problems. - It does not involve the characteristic facial or oral changes described in the question. *Osteomalacia* - This condition involves **defective bone mineralization** due to vitamin D deficiency, leading to bone pain and muscle weakness. - It primarily affects the skeletal system and does not cause facial changes or mucosal rigidity.

Question 308: Which of the following is not a defining feature of Paterson-Brown-Kelly syndrome?

A. Achalasia (Correct Answer)
B. Mucosal Webs
C. Cheilosis
D. Dysphagia

Explanation: *Dysphagia* - **Dysphagia** is a symptom associated with Paterson-Brown-Kelly syndrome as it results from the presence of **mucosal webs**. - It contributes to the difficulty in swallowing due to obstructive lesions in the esophagus. *Cheilosis* - **Cheilosis** (or angular cheilitis) can occur in patients with iron deficiency anemia, which is part of the syndrome. - However, it is not one of the classical components of the triad established for this syndrome. *Mucosal webs* - **Mucosal webs** are a key feature of Paterson-Brown-Kelly syndrome. - They lead to an **obstruction** in the esophagus, which is intrinsic to the condition. *Iron deficiency anemia* - **Iron deficiency anemia** is a significant aspect of Paterson-Brown-Kelly syndrome, as it accompanies the pathophysiology of the mucosal webs. - It is one of the clinical features that result from chronic bleeding or malabsorption.

Question 309: Heerfordt's syndrome consists of fever, parotid enlargement, facial palsy, and which of the following?

A. Facial palsy
B. Uveitis (Correct Answer)
C. Fever
D. Parotid enlargement

Explanation: ***Uveitis*** - **Heerfordt's syndrome** is a rare manifestation of **sarcoidosis**, classically characterized by a tetrad of symptoms: **fever**, **parotid gland enlargement**, **facial nerve palsy**, and **uveitis**. - **Uveitis** (inflammation of the uvea of the eye) is a key component differentiating this syndrome. *Fever* - **Fever** is one of the four defining components of Heerfordt's syndrome, but it is not the *missing* component being asked for in the question. - The question asks for the additional symptom that, along with the others listed, completes the syndrome. *Parotid enlargement* - **Parotid enlargement** (inflammation and swelling of the parotid glands) is another established component of Heerfordt's syndrome. - It's already mentioned in the question stem as one of the symptoms present. *Facial palsy* - **Facial palsy** (weakness or paralysis of the facial muscles, often unilateral) is also a classic feature of Heerfordt's syndrome. - This symptom is explicitly mentioned in the question as one of the presenting features.

Question 310: A chronic smoker presents with mild haemoptysis, and also reports a history of hypertension and obesity. Laboratory data reveal raised ACTH levels that are not suppressed by dexamethasone, leading to a diagnosis of Cushing's syndrome. Which of the following is the cause of Cushing's syndrome in this patient?

A. Ectopic ACTH secreting tumor (Correct Answer)
B. MEN I
C. Pituitary adenoma
D. Adrenal cortical adenoma

Explanation: Ectopic ACTH secreting tumor - The combination of **hemoptysis** in a **chronic smoker** points towards a **lung tumor**, which can produce ACTH ectopically [1]. - **High ACTH** levels that are **not suppressed by dexamethasone** are characteristic of ectopic ACTH production, as these tumors are generally not regulated by the normal feedback mechanisms [1]. *MEN I* - **Multiple Endocrine Neoplasia type 1 (MEN I)** often includes pituitary tumors, but the presentation with hemoptysis and the specific lack of ACTH suppression point away from a pituitary-driven Cushing's. - MEN I is associated with tumors of the **parathyroid**, **pituitary**, and **pancreatic islet cells**, and while it can cause Cushing's, the **hemoptysis** is a strong differentiator. *Pituitary adenoma* - While a **pituitary adenoma** (Cushing's disease) causes ACTH-dependent Cushing's, the ACTH levels are typically **suppressed by high-dose dexamethasone**. - The patient's history of **hemoptysis** in a smoker strongly suggests a primary pulmonary pathology, not a pituitary tumor [1]. *Adrenal cortical adenoma* - An **adrenal cortical adenoma** causes **ACTH-independent Cushing's syndrome**, meaning ACTH levels would be **low or undetectable**, not elevated [1], [2]. - The primary problem in this case is high ACTH, ruling out adrenal adenoma as the direct cause of Cushing's syndrome [2].

Practice by Chapter

Approach to Common Symptoms (Fever, Pain, Fatigue)

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Constitutional Symptoms and Their Differential Diagnosis

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Syncope and Presyncope

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Dizziness and Vertigo

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Dyspnea and Respiratory Distress

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Chest Pain Evaluation

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Abdominal Pain Assessment

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Headache Classification and Management

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Weight Loss and Cachexia

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Edema and Fluid Retention

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