Clinical Manifestations and Presentation of Diseases Practice Questions

Q: A girl who developed abdominal pain and presented to the emergency department with a seizure after taking sulphonamides is likely to have a diagnosis of:

Acute intermittent porphyria due to other triggers. ***Acute intermittent porphyria due to other triggers*** - The combination of **abdominal pain**, **seizure**, and the **ingestion of sulfonamides** (a known trigger) is highly suggestive of an acute porphyric attack [1]. - **Sulfonamides** induce δ-aminolevulinate synthase, leading to an overproduction of neurotoxic porphyrin precursors [1]. *Congenital erythropoietic porphyria with skin manifestations* - This condition primarily presents with **severe photosensitivity**, **blistering skin lesions**, and **hemolytic anemia**, rather than acute neurological symptoms [1]. - While it is a type of porphyria, its clinical presentation and triggers are distinct from the neurovisceral symptoms described. *Infectious mononucleosis with fever and lymphadenopathy* - Characterized by **fever**, **fatigue**, **sore throat**, and **lymphadenopathy**, symptoms not aligned with the severe abdominal pain and seizure observed. - This condition is caused by the Epstein-Barr virus and is not triggered by sulfonamide use. *Kawasaki disease with prolonged fever and rash* - This is an **acute vasculitis** in children, involving **prolonged fever**, **rash**, **conjunctivitis**, and lymphadenopathy, but not seizures or abdominal pain caused by sulfonamides. - It primarily affects the cardiovascular system and is not related to porphyria or drug-induced attacks.

Q: True regarding the presentation of primary tuberculosis is

U/L hilar lymphadenopathy. ***U/L hilar lymphadenopathy*** - A **unilateral hilar lymphadenopathy** is a classic radiographic finding in **primary pulmonary tuberculosis** in children and often in adults, representing the enlargement of lymph nodes draining the primary lung lesion. - The disease typically begins with a primary lesion (Ghon focus) in the lung parenchyma and regional **lymph node involvement** constitutes the primary complex [1]. *B/L pleural effusion with negative Tuberculin test* - **Bilateral pleural effusion** is an uncommon presentation for primary tuberculosis; typically, effusions are unilateral. - A **negative Tuberculin test** (PPD) would make a diagnosis of tuberculosis less likely, although it can be negative in immunocompromised individuals or in the very early stages of infection. *Sustained chronic pyrexia* - While fever (pyrexia) is a common symptom of tuberculosis, **sustained chronic pyrexia** is more characteristic of secondary (post-primary) or disseminated tuberculosis, not necessarily primary infection which is often asymptomatic or mildly symptomatic [2]. - Fevers in primary TB, if present, can be low-grade and intermittent rather than sustained and chronic. *B/L pleural effusion with positive tuberculin test* - Although a **positive Tuberculin test** indicates prior exposure to M. tuberculosis, **bilateral pleural effusion** is an unusual initial presentation of primary tuberculosis. - Pleural effusions in TB are typically unilateral and usually result from a hypersensitivity reaction or direct spread from a primary lesion, but bilateral involvement is less common.

Q: Volcano ulcers in the esophagus are seen in

Herpetic esophagitis. ***Herpetic esophagitis*** - **Herpes simplex virus (HSV)** esophagitis is characterized by multiple, small **volcano-like ulcers** with a raised border and central erosion. - These ulcers are typically formed by the rupture of HSV-induced vesicles, commonly found in **immunocompromised patients**. *Candida esophagitis* - This condition is characterized by **white, adherent plaques or pseudomembranes** on the esophageal mucosa, not discrete volcano ulcers. - It is caused by **Candida albicans** and often presents with dysphagia and odynophagia, particularly in immunocompromised individuals. *Aphthous ulcer in Crohn's* - **Aphthous ulcers** in Crohn's disease are typically found in the mouth, but can occur in the esophagus, though they are usually **solitary, deep craters** with undermined edges rather than volcano-like lesions. - These ulcers are associated with **granulomatous inflammation** and tend to be more painful and chronic. *HIV esophagitis* - **HIV-associated esophageal ulcers** are often large, shallow, and discrete, but they do not typically present with the classic "volcano" morphology. - These ulcers are primarily thought to be related to **idiopathic processes** or other opportunistic infections, not specifically "volcano" ulcers.

Q: Which of the following is NOT a feature of Hartnup's disease?

Mental retardation. ***Mental retardation*** - While Hartnup's disease can lead to neurological symptoms and developmental delays, **frank mental retardation** is not a typical or primary feature. - The neurological deficits are usually reversible with treatment, and intellectual function is generally preserved. *Pellagroid skin lesion* - Hartnup's disease is an autosomal recessive metabolic disorder affecting the absorption and transport of **neutral amino acids**, including **tryptophan**. - Tryptophan is a precursor to **niacin**, so its malabsorption can lead to a deficiency, manifesting as **pellagroid skin lesions** [1] (photosensitive rash) similar to pellagra [1]. *Cerebellar ataxia* - Malabsorption of tryptophan also impacts **neurotransmitter synthesis** (serotonin and niacin-derived coenzymes), leading to psychiatric and neurological symptoms. - **Cerebellar ataxia** is a common neurological feature, resulting in uncoordinated movements, typically episodic and precipitated by stress or illness. *Psychological disturbances* - The neurological manifestations of Hartnup's disease commonly include various **psychological disturbances**. - These can range from **anxiety**, **depression**, and **mood swings** to psychosis in severe cases.

Q: All of the following are features of scurvy except which of the following?

Hypoglycemia. ***Hypoglycemia*** - **Hypoglycemia** is not a feature of scurvy. Scurvy results from a deficiency of **vitamin C**, which is essential for collagen synthesis [1]. - Vitamin C is not directly involved in glucose regulation or insulin sensitivity, meaning its deficiency does not typically lead to low blood sugar levels. *Hyperkeratosis* - **Hyperkeratosis** (thickening of the outer layer of the skin, often around hair follicles) is a recognized dermatological manifestation of **scurvy**. - This is due to impaired collagen synthesis affecting skin integrity and maintenance. *Ecchymosis of lower limbs* - **Ecchymosis** (bruising) is a classic symptom of scurvy, often prominent on the lower limbs, due to impaired vessel integrity [1]. - **Vitamin C** is crucial for **collagen formation**, which is a vital component of blood vessel walls; its deficiency leads to fragile capillaries that easily rupture [1]. *Bleeding gums* - **Bleeding gums** (gingival hemorrhage) is one of the most well-known and characteristic signs of advanced **scurvy** [1]. - This is due to the weakening of connective tissue in the gums, compromising their structure and leading to spontaneous bleeding [1].

Q: The presence of estrogen receptors is associated with certain types of breast cancer. Which of the following factors is known to increase the risk of developing breast cancer?

Nulliparity. Nulliparity - **Nulliparity** (never having given birth) increases the risk of breast cancer because a woman has more **menstrual cycles** throughout her reproductive life, leading to greater lifetime exposure to **estrogen** [1]. - Childbirth and breastfeeding are thought to provide a degree of protection against breast cancer, possibly due to hormonal changes, cellular differentiation, and a reduction in the total number of menstrual cycles. *Smoking* - While smoking is a known risk factor for many cancers, its association with breast cancer is **controversial** and less direct compared to other factors. - The evidence linking smoking directly to increased breast cancer risk is **inconsistent** across studies, with some finding a modest link, especially in women who start smoking at an early age. *Oral contraceptives* - The use of **oral contraceptives** has been shown to have a **minimal** and transient effect on breast cancer risk. - This risk is often considered small and resolves over time after discontinuation, and the overall benefit-risk profile is still favorable for many women. *Multiparity* - **Multiparity** (having multiple live births) is generally associated with a **decreased risk** of breast cancer, particularly if the first full-term pregnancy occurs at a younger age. - The hormonal changes during pregnancy and the differentiation of breast tissue are believed to provide protective effects against malignant transformation.

Q: What is the optimal timing for collecting a urine sample from a patient with tuberculosis or kidney disease?

In early morning. ***In early morning*** - The first morning urine sample is the most concentrated, increasing the likelihood of detecting **microorganisms** or abnormal cells in conditions like **tuberculosis** or kidney disease. - This increased concentration makes it easier to identify pathogens such as **Mycobacterium tuberculosis** or subtle indicators of **renal pathology**. *24 hrs urine* - A 24-hour urine collection is typically used for assessing **renal function** or quantifying substances excreted over a full day (e.g., protein, creatinine clearance), not for detecting pathogens [1]. - While it measures total excretion, the dilution over this period can make it less effective for identifying **low concentrations** of microorganisms or cells crucial for initial diagnosis. *12 hrs urine* - A 12-hour collection, similar to 24-hour, is more focused on **quantitative analysis** over an extended period rather than optimizing concentration for qualitative detection [1]. - It does not offer the same peak concentration benefits as the first morning void needed for **sensitive diagnostic screening**. *Any time* - Random urine samples are often diluted, which decreases the sensitivity for detecting **low colony counts** of bacteria or trace amounts of abnormal components. - Less concentrated samples can lead to **false negatives**, especially in diseases where pathogen shedding might be intermittent or minimal.

Q: Administration of glucose solution is prescribed for all of the following situations except?

History of unconsciousness. History of unconsciousness - While unconsciousness can be caused by hypoglycemia, administering glucose without confirming the cause could be dangerous if the underlying issue is hyperglycemia or another condition [1]. - A definitive diagnosis of hypoglycemia (e.g., via a blood glucose test) is crucial before administering glucose, especially in an unconscious patient [3][4]. Neonates - Neonates, particularly those who are preterm or small for gestational age, are prone to hypoglycemia because their glycogen stores are limited and their metabolic rate is high. - Glucose solution is often administered prophylactically or therapeutically to maintain adequate blood glucose levels in these vulnerable infants. Child of a diabetic mother - Infants born to diabetic mothers are at very high risk for neonatal hypoglycemia due to chronic exposure to high glucose levels in utero, leading to pancreatic beta-cell hyperplasia and hyperinsulinism [2]. - Glucose solution is commonly given to these infants to prevent or treat plummeting blood glucose levels after birth. History of hypoglycemia - A patient with a history of hypoglycemia (low blood sugar) will likely benefit from glucose administration during an acute episode to rapidly raise blood glucose levels [3]. - This is a direct and appropriate treatment for confirmed or suspected episodes of low blood sugar [4].

Q: Commonest manifestation of Grawitz's tumor in males is

Hematuria. ***Hematuria*** - **Grawitz's tumor**, also known as **renal cell carcinoma (RCC)**, commonly presents with macroscopic or microscopic **hematuria** due to tumor invasion of the collecting system [1]. - While other symptoms can occur, **painless hematuria** is often the primary and most frequently observed symptom, leading to medical evaluation [1]. *Secondary deposits* - While **metastasis** is common in RCC, especially in advanced stages, it usually occurs later in the disease progression [1]. - Patients often present with local symptoms like **hematuria** before widespread secondary deposits become the predominant manifestation [1]. *Pathological fracture* - **Pathological fractures** are a manifestation of **bone metastasis**, which is a secondary deposit. - This symptom implies advanced disease and is not typically the initial or most common presentation of Grawitz's tumor. *Rapidly developing varicocele* - A rapidly developing **left-sided varicocele** can be a sign of RCC, specifically due to **renal vein obstruction** by the tumor or thrombus. - However, this is a less common initial presentation compared to **hematuria**, which directly reflects tumor involvement of the kidney's excretory system.

Question 1

A girl who developed abdominal pain and presented to the emergency department with a seizure after taking sulphonamides is likely to have a diagnosis of:

Accepted Answer

Acute intermittent porphyria due to other triggers

Answer

Congenital erythropoietic porphyria with skin manifestations

Answer

Infectious mononucleosis with fever and lymphadenopathy

Answer

Kawasaki disease with prolonged fever and rash

Question 2

True regarding the presentation of primary tuberculosis is

Accepted Answer

U/L hilar lymphadenopathy

Answer

B/L pleural effusion with negative Tuberculin test

Answer

Sustained chronic pyrexia

Answer

B/L pleural effusion with positive tuberculin test

Question 3

What does sialosis refer to?

Accepted Answer

Non-inflammatory parotid enlargement due to metabolic conditions

Answer

Inflammatory parotid enlargement due to infection

Answer

Autoimmune parotid gland dysfunction

Answer

Ductal obstruction leading to salivary retention

Question 4

Volcano ulcers in the esophagus are seen in

Accepted Answer

Herpetic esophagitis

Answer

Candida esophagitis

Answer

HIV esophagitis

Answer

Aphthous ulcer in Crohn's

Question 5

Which of the following is NOT a feature of Hartnup's disease?

Accepted Answer

Mental retardation

Answer

Cerebellar ataxia

Answer

Psychological disturbances

Answer

Pellagroid skin lesion

Question 6

All of the following are features of scurvy except which of the following?

Accepted Answer

Hypoglycemia

Answer

Ecchymosis of lower limbs

Answer

Bleeding gums

Answer

Hyperkeratosis

Question 7

The presence of estrogen receptors is associated with certain types of breast cancer. Which of the following factors is known to increase the risk of developing breast cancer?

Accepted Answer

Nulliparity

Answer

Smoking

Answer

Oral contraceptives

Answer

Multiparity

Question 8

What is the optimal timing for collecting a urine sample from a patient with tuberculosis or kidney disease?

Accepted Answer

In early morning

Answer

24 hrs urine

Answer

12 hrs urine

Answer

Any time

Question 9

Administration of glucose solution is prescribed for all of the following situations except?

Accepted Answer

History of unconsciousness

Answer

Neonates

Answer

Child of a diabetic mother

Answer

History of hypoglycemia

Question 10

Commonest manifestation of Grawitz's tumor in males is

Accepted Answer

Hematuria

Answer

Secondary deposits

Answer

Pathological fracture

Answer

Rapidly developing varicocele

Clinical Manifestations and Presentation of Diseases — MCQs

Clinical Manifestations and Presentation of Diseases — MCQs

On this page

Practice by Chapter

Want unlimited practice?