Clinical Manifestations and Presentation of Diseases Practice Questions

Q: Which of the following is NOT a feature of Peutz-Jeghers syndrome?

Autosomal recessive inheritance. ***High risk of malignancy*** - Peutz-Jeghers syndrome is primarily associated with **benign hamartomatous polyps**, not a **high risk of malignancy**, which distinguishes it from other syndromes. - Although patients may develop cancers [1], the syndrome itself does not inherently denote a high malignancy risk like other syndromes such as familial adenomatous polyposis. *Autosomal dominant* - This syndrome is indeed **autosomal dominant**, caused by mutations in the STK11 gene. - Families with this condition typically show **vertical transmission**, characteristic of autosomal dominant inheritance. *Hamartomatous polyp* - Individuals with Peutz-Jeghers syndrome develop **hamartomatous polyps**, which are a hallmark feature of the condition [1]. - These polyps can occur in the gastrointestinal tract and are benign lesions rather than adenomatous type seen in other syndromes [1]. *Mucocutaneous pigmentation* - Mucocutaneous pigmentation, such as **freckling around the lips and buccal mucosa**, is a key clinical feature of Peutz-Jeghers syndrome. - This pigmentation usually appears in childhood and is often a distinguishing sign of the syndrome.

Q: Which HLA antigen is associated with thromboangitis obliterans?

HLA-B5. HLA-B5 - **HLA-B5** (specifically **HLA-B51**) has been associated with an increased risk of **thromboangiitis obliterans (Buerger's disease)** in some populations. - This association suggests a potential genetic predisposition, although the disease's primary risk factor remains **smoking**. *HLA-B27* - **HLA-B27** is strongly associated with **spondyloarthropathies**, such as **ankylosing spondylitis** and **reactive arthritis**, not thromboangiitis obliterans [1]. - Its presence indicates a genetic susceptibility to inflammatory arthritic conditions primarily affecting the spine and sacroiliac joints [1]. *HLA-DR4* - **HLA-DR4** is a well-known genetic marker associated with **rheumatoid arthritis**, particularly severe forms. - It is also linked to other autoimmune diseases like **Type 1 Diabetes**, but not thromboangiitis obliterans. *HLA-DR2* - **HLA-DR2** is associated with an increased risk of several autoimmune diseases, most notably **multiple sclerosis** and **narcolepsy**. - While it plays a role in immune regulation, it is not specifically linked to thromboangiitis obliterans.

Q: Which of the following is not a typical feature of haemolytic uremic syndrome?

Splenomegaly. ***Neuro psychiatric disturbances*** - Neuropsychiatric disturbances are not a direct feature of hemolytic uremic syndrome (HUS), which primarily affects renal and hematological systems. - HUS is characterized by a triad of **hemolytic anemia**, **thrombocytopenia**, and **acute renal failure**, without specific neuropsychiatric manifestations [2]. *Anaemia* - **Hemolytic anemia** is a key feature of HUS due to red blood cell destruction [1], [2]. - Patients often exhibit signs of **fatigue and pallor**, distinguishing it from other renal syndromes [3]. *Renal microthrombi* - HUS is characterized by the formation of **microthrombi in renal vasculature**, leading to acute kidney injury [1]. - The presence of these microthrombi is fundamental to the pathology of HUS [1]. *Hyperkalemia* - Renal failure in HUS can lead to **hyperkalemia** due to decreased potassium excretion. - It is a common complication associated with the acute renal failure seen in HUS.

Q: In a patient with acute cholecystitis, referred pain to the shoulder is known as

Boas' sign. ***Boas' sign*** - **Boas' sign** refers to the presence of hyperesthesia below the right scapula, which can also manifest as referred pain to the **right shoulder** or back [1]. - This symptom in acute cholecystitis is due to the **irritation** of the **phrenic nerve**, which shares sensory pathways with the shoulder region. *Murphy's sign* - **Murphy's sign** is elicited by asking the patient to exhale, then placing the examiner's hand below the costal margin on the right mid-clavicular line, and then asking the patient to inhale deeply [1]. - A positive sign is indicated by a sudden cessation of inspiration due to pain, which is specific for **acute cholecystitis** and not referred shoulder pain [1]. *Gray Turner sign* - The **Gray Turner sign** involves ecchymosis or discoloration of the flanks. - It is a severe indicator of **retroperitoneal hemorrhage**, often associated with acute pancreatitis, not cholecystitis [2]. *Cullen's sign* - **Cullen's sign** presents as periumbilical ecchymosis or discoloration around the navel. - This sign is also indicative of **retroperitoneal hemorrhage**, typically seen in serious conditions like ruptured ectopic pregnancy or acute pancreatitis.

Q: Which of the following is not a feature of Systemic Lupus Erythematosus (SLE)?

Sterility. ***Sterility*** - While SLE can affect fertility due to **gonadal dysfunction** or **treatment-related factors**, it is not a *direct* or *defining feature* of the disease itself. - Sterility is a less common manifestation compared to the widespread organ system involvement that characterizes SLE [2]. *Recurrent abortion* - **Recurrent abortions** are a well-recognized complication in SLE, particularly when associated with **antiphospholipid syndrome**, which frequently co-occurs with SLE [1]. - **Antiphospholipid antibodies** can lead to thrombosis in placental vessels, causing fetal loss. *Psychosis* - **Psychosis** is a significant neuropsychiatric manifestation of SLE, classified under **neuropsychiatric lupus (NPSLE)**. - It can result from **inflammation**, **autoantibody effects**, or **ischemia** within the central nervous system. *Coomb's positive hemolytic anemia* - **Coomb's positive hemolytic anemia** is a common hematological complication in SLE, indicating the presence of **autoantibodies** against red blood cells [3]. - This **autoimmune destruction** of red blood cells leads to anemia, and a positive direct Coombs test confirms antibody sensitization [3].

Q: Which of the following statements about lymphedema precox is false?

More common in men. ***More common in men*** - Lymphedema praecox, also known as **Meige disease**, is significantly more common in **women** than in men. - The female-to-male ratio for lymphedema praecox is approximately **4:1**. *Affects the legs* - **Lymphedema praecox** predominantly affects the **lower extremities**, leading to swelling and discomfort in the legs. - This condition is characterized by **edema** of the ankles and feet, which can progress upwards. *2-35yrs of age* - Lymphedema praecox is defined by its onset, which typically occurs between **puberty and 35 years of age**. - This age range distinguishes it from **congenital lymphedema** (onset before age 2) and lymphedema tarda (onset after age 35). *Typically unilateral (affects one side)* - While lymphedema can eventually become bilateral, it commonly presents as **unilateral swelling** in one leg initially. - Over time, the condition may progress to affect the other limb, but the initial presentation is often **asymmetrical**.

Q: Which of the following conditions is most commonly associated with resorption of the distal phalanx?

Scleroderma. ***Scleroderma*** - **Scleroderma** (systemic sclerosis) can cause characteristic changes in the distal phalanges, specifically **acro-osteolysis**, leading to resorption of the **distal tufts** [1]. - This is often associated with **Raynaud's phenomenon**, **digital ischemia**, and **calcinosis**, leading to severe circulatory compromise in the digits [1]. *Hyperparathyroidism* - **Primary hyperparathyroidism** causes bone resorption due to increased parathyroid hormone, primarily affecting the **subperiosteal bone** (especially in the radial aspect of the middle phalanges), leading to a "lace-like" appearance on X-ray. - While it causes bone resorption, **distal phalanx tuft resorption** is not its most common or prominent skeletal feature compared to scleroderma. *Reiter's syndrome* - **Reiter's syndrome** (now known as reactive arthritis) is an inflammatory arthropathy usually involving large joints of the lower extremities in an **asymmetric** pattern. - It does not typically cause **resorption of the distal phalanx**; instead, it's associated with enthesitis, dactylitis, and periostitis. *Osteitis deformans (Paget's disease)* - **Paget's disease** is characterized by abnormal bone remodeling, leading to enlarged, deformed bones that are prone to fracture, predominantly affecting the **pelvis, spine, skull, and long bones**. - It causes areas of localized bone destruction and excessive bone formation, but **distal phalanx resorption** is not a feature of this condition.

Q: What is the daily temperature variation in remittent fever?

> 1.0 °C. ***> 1.0 °C*** - In **remittent fever**, the temperature fluctuates by **more than 1.0 °C** (or 2°F) over a 24-hour period. [1] - Despite the significant variation, the temperature **never returns to normal** during the day. [1] *< 0.5 °C* - A variation of less than 0.5 °C (or 1°F) is more characteristic of a **sustained or continuous fever**, where the temperature remains elevated with minimal fluctuation. [1] - This pattern is seen in conditions like **typhoid fever** or **pneumonia**. * 2.0 °C* - While a variation greater than 2.0 °C would certainly fall under the definition of remittent fever (as it's > 1.0 °C), the defining lower limit for remittent fever is typically **> 1.0 °C (or 2°F)**. - A larger fluctuation might occur, but > 1.0 °C is the minimum threshold.

Q: The most classical symptom of VIPOMA is:

Secretory diarrhea. The original text cannot be accurately enriched with the provided references to because none of the source materials directly address the pathophysiology or clinical presentation of VIPoma. The available references focus on general gastroenteropancreatic neuroendocrine tumors (NETs) , radiation-induced intestinal damage , arsenic poisoning , gastrointestinal bleeding , and the physiology of taste , but they do not provide the specific confirmation needed for the 'classical symptom' of VIPoma (secretory diarrhea).

Question 1

Which of the following is NOT a feature of Peutz-Jeghers syndrome?

Accepted Answer

Autosomal recessive inheritance

Answer

Mucocutaneous pigmentation

Answer

Autosomal dominant

Answer

Hamartomatous polyp

Question 2

Which HLA antigen is associated with thromboangitis obliterans?

Accepted Answer

HLA-B5

Answer

HLA-B27

Answer

HLA-DR4

Answer

HLA-DR2

Question 3

Which of the following is not a typical feature of haemolytic uremic syndrome?

Accepted Answer

Splenomegaly

Answer

Anemia

Answer

Renal microthrombi

Answer

Hyperkalemia

Question 4

Which of the following is a characteristic of Yellow-nail syndrome?

Accepted Answer

Pleural effusion and lymphedema, associated with discolored nails

Answer

Knee joint effusion and lymphedema, associated with discolored nails

Answer

Pericardial effusion and lymphedema, associated with discolored nails

Answer

Peritoneal effusion and lymphedema, associated with discolored nails

Question 5

In a patient with acute cholecystitis, referred pain to the shoulder is known as

Accepted Answer

Boas' sign

Answer

Murphy's sign

Answer

Gray Turner sign

Answer

Cullen's sign

Question 6

Which of the following is not a feature of Systemic Lupus Erythematosus (SLE)?

Accepted Answer

Sterility

Answer

Recurrent abortion

Answer

Psychosis

Answer

Coomb's positive hemolytic anemia

Question 7

Which of the following statements about lymphedema precox is false?

Accepted Answer

More common in men

Answer

Affects the legs

Answer

2-35yrs of age

Answer

Typically unilateral (affects one side)

Question 8

Which of the following conditions is most commonly associated with resorption of the distal phalanx?

Accepted Answer

Scleroderma

Answer

Hyperparathyroidism

Answer

Reiter's syndrome

Answer

Osteitis deformans (Paget's disease)

Question 9

What is the daily temperature variation in remittent fever?

Accepted Answer

> 1.0 °C

Answer

< 0.5 °C

Answer

< 1.0 °C

Answer

> 2.0 °C

Question 10

The most classical symptom of VIPOMA is:

Accepted Answer

Secretory diarrhea

Answer

Gall stones

Answer

Steatorrhea

Answer

Flushing

Clinical Manifestations and Presentation of Diseases — MCQs

Clinical Manifestations and Presentation of Diseases — MCQs

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