Clinical Manifestations and Presentation of Diseases Practice Questions

Q: What is shown in the image below?

Pectus excavatum. ***Pectus excavatum*** - The image clearly depicts **pectus excavatum**, which is the direct and accurate identification of the congenital chest wall deformity shown. - This represents a **depression of the sternum** and costal cartilages, creating the characteristic caved-in appearance of the anterior chest wall. *Most common type of chest deformity* - While this is a factually correct statement about pectus excavatum being the most common congenital chest wall deformity, it describes a **general characteristic** of the condition rather than what is specifically shown in the image. - The question asks about the image itself, making direct identification more appropriate than stating epidemiological facts. *Displaced apex beat* - This is a potential **cardiovascular complication** that may occur in severe cases due to cardiac compression and displacement. - However, it cannot be definitively determined from the image alone and is **not universally present** in all cases of pectus excavatum, especially milder forms. *Reduced timed vital capacity* - This represents a potential **respiratory complication** that can result from lung compression in significant cases of pectus excavatum. - Like displaced apex beat, this cannot be assessed from the image and is **not invariably present**, depending on the severity of the chest wall deformity.

Q: A 9-year-old girl presents with pigmentation over forehead and redness over upper eyelids. On physical examination following clinical sign was elicited. What is the next best step for diagnosis?

CK level. ***CK level*** - The combination of **Gottron's papules** (pigmentation over joints), **Heliotrope rash** (redness over upper eyelids), and difficulty standing up as depicted (suggesting **proximal muscle weakness**) are classic signs of **dermatomyositis**, especially in a child. - **Creatine Kinase (CK)** is a key enzyme released by damaged muscle fibers, making its measurement the most appropriate initial diagnostic step to assess for muscle inflammation and damage in dermatomyositis. *Rheumatoid factor* - **Rheumatoid factor (RF)** is primarily associated with **rheumatoid arthritis**, which typically affects joints and not primarily the skin or proximal muscles in the manner described. - While some autoimmune conditions can overlap, RF is not a primary diagnostic marker for dermatomyositis. *Electromyography* - **Electromyography (EMG)** measures muscle electrical activity and can indeed show abnormalities in dermatomyositis (e.g., fibrillation potentials, positive sharp waves, and polyphasic motor unit potentials). - However, it is typically a **secondary diagnostic step** performed after initial biochemical tests like CK levels indicate muscle involvement. *Nerve conduction studies* - **Nerve conduction studies (NCS)** assess the function of peripheral nerves and are primarily used to diagnose **neuropathies**. - Dermatomyositis is a **myopathy** (muscle disease) not a neuropathy, so NCS would likely be normal or show non-specific findings, making it less relevant for initial diagnosis.

Q: Arrange the following milestones in correct order.

A, B, D, C. ***A → B → D → C (Correct order of developmental milestones)*** The correct chronological sequence of gross motor milestones depicted in the images is: - **A (Sucking/Feeding — Birth):** Sucking is a **primitive reflex** present at birth, essential for neonatal survival and one of the earliest neurological signs assessed. - **B (Sitting with support / Landau reflex — 4–6 months):** **Head control** is achieved around 2–4 months; **sitting with support** follows at 4–6 months. The **Landau reflex** (prone suspension → trunk/head/leg extension) emerges ~3 months and integrates by 12–24 months. - **D (Pulling to stand / Cruising — 9–12 months):** Infants **pull to stand** and **cruise** along furniture at 9–12 months, reflecting developing lower limb strength and postural control. - **C (Crawling up stairs — 12+ months):** While crawling begins ~6–10 months, **navigating stairs by crawling** is a more advanced motor skill requiring greater coordination, typically emerging after 9–12 months of crawling proficiency. *A, B, C, D — Incorrect:* Places stair-climbing (C) before standing/cruising (D), reversing the correct developmental sequence. *B, A, D, C — Incorrect:* Places sitting with support (B) before sucking/feeding (A), which is incorrect since sucking is a birth reflex. *A, D, B, C — Incorrect:* Places pulling to stand (D) before sitting with support (B), which contradicts the cephalocaudal and proximal-to-distal progression of motor development.

Q: All of the following can be causes of this enlarged tongue except: (Recent NEET Pattern 2016-17)

Fabry's disease. ***Fabry's disease*** - Fabry's disease is a **lysosomal storage disorder** caused by a deficiency of the enzyme **alpha-galactosidase A**, leading to the accumulation of globotriaosylceramide. - While it affects various organs, **macroglossia (enlarged tongue) is not a typical or primary feature** of Fabry's disease. *Beckwith-Wiedemann syndrome* - This is a **growth disorder** often characterized by **macroglossia**, which is an enlarged tongue, as seen in the image. - Other features include **omphalocele**, **hemihyperplasia**, and an increased risk of childhood tumors. *Lysosomal storage disorder* - Some lysosomal storage disorders, such as certain forms of **mucopolysaccharidoses** (e.g., Hurler syndrome), can cause cellular accumulation of undigested waste products, leading to **organomegaly including macroglossia**. - This broad category includes conditions where the tongue can be enlarged due to accumulation of specific substrates. *Glycogen storage disorder* - Specifically, **Glycogen Storage Disease Type II (Pompe disease)** is a **lysosomal storage disorder** characterized by the accumulation of glycogen in lysosomes, particularly in muscle tissue. - This accumulation can lead to **cardiomyopathy**, muscle weakness, and often **macroglossia**.

Q: An examiner is performing a deep tendon reflex examination as shown in the image. What error in technique is being demonstrated?

Holding the reflex hammer too far down the handle. ***Holding the reflex hammer too far down the handle*** - The image depicts the examiner holding the **reflex hammer incorrectly** — the long handle is gripped too far down the shaft (at the distal end), far from the head - This improper grip compromises the **hammer's natural pendulum momentum**, making it difficult to control the force and accuracy of the tap - The correct technique requires holding the hammer **near the proximal end of the handle** (close to the head), allowing the head to swing freely under gravity for a smooth, consistent strike - Improper grip leads to **inaccurate or absent reflex responses**, affecting test validity *Striking the reflex point with excessive force* - Excessive force is a separate common error in reflex testing, but this is **not what is demonstrated** in the image - The primary error shown is about grip position, not the magnitude of force applied *Testing the reflex at an incorrect anatomical location* - While striking the wrong site would also yield an absent or diminished reflex, the **image does not depict incorrect site selection** - The anatomical target appears appropriate; the error is in how the hammer is held *Not adequately relaxing the patient prior to testing* - Patient relaxation is essential for eliciting accurate deep tendon reflexes (hence the use of Jendrassik maneuver as reinforcement), but **this cannot be assessed from the examiner's grip position** shown in the image

Q: What type of fever is a patient with the following temperature charting having?

Intermittent fever. ***Intermittent fever*** - The temperature graph clearly shows periods where the temperature **returns to normal** or below normal levels each day, followed by spikes. - This pattern, where there are significant fluctuations and the temperature touches the baseline, defines an **intermittent fever**. *Continuous fever* - A continuous fever is characterized by sustained elevation of temperature with **minimal fluctuation (less than 1°C)** over 24 hours. - The temperature in this graph shows wide fluctuations and frequently drops to normal, ruling out a continuous pattern. *Remittent fever* - In remittent fever, the temperature fluctuates significantly, but it **does not return to normal** during the course of the day. - The provided charting shows the temperature dropping back to or below the baseline (green dashed line), which is inconsistent with remittent fever. *Pel-ebstein fever* - Pel-ebstein fever is a **recurrent, cyclical fever** characterized by bouts of fever lasting several days or weeks, separated by afebrile periods of similar duration. - This specific pattern is typically associated with **Hodgkin's lymphoma** and is not represented by the daily fluctuations seen in the given chart.

Q: What type of fever is a patient with the following temperature charting having?

Remittent fever. ***Remittent fever*** - In a remittent fever, the temperature fluctuates by **more than 2°C (3.6°F)** but **never returns to normal** during the course of the day. - The provided chart shows daily temperature fluctuations exceeding 2°C (e.g., from peak 40.0°C to trough around 38.9°C), with all readings consistently remaining above the normal body temperature of 37.2°C (99°F). *Continuous fever* - A continuous fever is characterized by a temperature that remains **elevated with minimal fluctuations**, typically less than 1°C (1.8°F), and does not return to normal. - The temperature swings in the chart are much larger than 1°C, ruling out a continuous fever. *Intermittent fever* - This type of fever is characterized by periods of fever interspersed with periods when the temperature **returns to normal** or subnormal levels. - In the given chart, the temperature consistently stays above normal, never reaching the green line representing normal body temperature. *Quotidian fever* - A quotidian fever is a type of intermittent fever where a single daily febrile episode occurs, meaning the temperature **returns to normal once every 24 hours**. - While there are daily peaks, the temperature in the chart never **touches or crosses the normal baseline**, distinguishing it from a quotidian pattern.

Q: Identify the disease shown in the image.

Pectus carinatum. ***Pectus carinatum*** - The image clearly shows a prominent, protruding sternum and chest wall, which is the characteristic clinical presentation of **pectus carinatum**, also known as "pigeon chest." - This condition results from an **abnormal growth of cartilage** connecting the ribs to the breastbone, pushing the sternum outward. *Gigantism* - Gigantism is characterized by **excessive growth** and height due to overproduction of growth hormone before the epiphyseal plates close. - It does not primarily manifest as a specific chest wall deformity but rather as overall accelerated growth. *Acromegaly* - Acromegaly results from **excessive growth hormone** production after the epiphyseal plates have closed, leading to enlarged hands, feet, and facial features. - While it causes bone overgrowth, it typically involves the extremities and skull, not specifically the sternum in the manner shown. *Goiter* - Goiter refers to an **enlargement of the thyroid gland**, located in the neck. - It presents as a swelling in the anterior neck, not as a chest wall deformity.

Q: All are possible diagnoses in this patient except:

Cushing disease. ***Cushing disease*** - **Hyperpigmentation** is not a characteristic feature of Cushing disease; instead, patients often present with thin, fragile skin and striae due to **excess cortisol**. - Cushing's disease is caused by an **ACTH-producing pituitary adenoma**, leading to increased cortisol but typically not the prominent melanosis seen here. *Peutz-Jeghers syndrome* - This syndrome is characterized by mucocutaneous pigmentation, typically presenting as **dark brown/blue macules on the lips, buccal mucosa, and around the nostrils and eyes**. - These pigmentations are often accompanied by **gastrointestinal hamartomatous polyps**, which can cause bleeding or obstruction. *Addison disease* - **Hyperpigmentation** of the skin and mucous membranes (especially in sun-exposed areas, pressure points, and palmar creases) is a classic sign of Addison disease due to increased **ACTH stimulating melanocytes**. - This clinical presentation *is consistent* with the image showing darkened fingertips and potentially nail beds. *Ochronosis* - Ochronosis is a rare genetic disorder characterized by the accumulation of **homogentisic acid** in connective tissues, leading to discoloration. - Pigmentation commonly affects the **ears, nose, sclera**, and eventually various other tissues, including nails and teeth, turning them bluish-black.

Question 1

What is shown in the image below?

Accepted Answer

Pectus excavatum

Answer

Displaced apex beat

Answer

Reduced timed vital capacity

Answer

Most common type of chest deformity

Question 2

A 9-year-old girl presents with pigmentation over forehead and redness over upper eyelids. On physical examination following clinical sign was elicited. What is the next best step for diagnosis?

Accepted Answer

CK level

Answer

Rheumatoid factor

Answer

Electromyography

Answer

Nerve conduction studies

Question 3

Arrange the following milestones in correct order.

Accepted Answer

A, B, D, C

Answer

A, B, C, D

Answer

B, A, D, C

Answer

A, D, B, C

Question 4

All of the following can be causes of this enlarged tongue except: (Recent NEET Pattern 2016-17)

Accepted Answer

Fabry's disease

Answer

Beckwith-Wiedemann syndrome

Answer

Lysosomal storage disorder

Answer

Glycogen storage disorder

Question 5

An examiner is performing a deep tendon reflex examination as shown in the image. What error in technique is being demonstrated?

Accepted Answer

Holding the reflex hammer too far down the handle

Answer

Striking the reflex point with excessive force

Answer

Testing the reflex at an incorrect anatomical location

Answer

Not adequately relaxing the patient prior to testing

Question 6

The image shows the dorsum of distal phalanges of the fingers of both hands approximated, leading to formation of a diamond-shaped gap — this is called Schamroth's window. Hamman crunch sign is heard in pneumomediastinum. Pemberton sign is seen in retrosternal goiter. Oliver sign is called tracheal tug and is seen in aortic aneurysm.

Which of the following statements is TRUE?

Accepted Answer

In mitral stenosis murmur, the presystolic accentuation disappears with atrial fibrillation.

Answer

Malar flush is seen with mitral stenosis. The CXR in the image shows presence of straightening of left heart border.

Answer

Candle flame jet is an apically directed transmitral jet seen on Doppler in mitral stenosis.

Answer

Pulmonary apoplexy occurs due to rupture of thin-walled dilated bronchopulmonary veins as a consequence of sudden rise of left atrial pressure.

Question 7

What type of fever is a patient with the following temperature charting having?

Accepted Answer

Intermittent fever

Answer

Continuous fever

Answer

Remittent fever

Answer

Pel-ebstein fever

Question 8

What type of fever is a patient with the following temperature charting having?

Accepted Answer

Remittent fever

Answer

Continuous fever

Answer

Intermittent fever

Answer

Quotidian fever

Question 9

Identify the disease shown in the image.

Accepted Answer

Pectus carinatum

Answer

Gigantism

Answer

Acromegaly

Answer

Goiter

Question 10

All are possible diagnoses in this patient except:

Accepted Answer

Cushing disease

Answer

Peutz-Jehgers syndrome

Answer

Addison disease

Answer

Ochronosis

Clinical Manifestations and Presentation of Diseases — MCQs

Clinical Manifestations and Presentation of Diseases — MCQs

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