Clinical Manifestations and Presentation of Diseases Practice Questions

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

Uveitis. ***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.

Q: 25-year-old male having fever and malaise for 2 weeks, arthritis of the ankle joint, and tender erythematous nodules over the shin. What is the diagnosis?

Erythema nodosum. ***Erythema nodosum*** - Erythema nodosum presents with **tender, erythematous nodules** on the shins, often associated with a **prodrome of fever and malaise**, and can be accompanied by **arthralgia or arthritis**, particularly in the ankle joint [1]. - It is a **panniculitis** (inflammation of subcutaneous fat) that can be triggered by various systemic conditions, infections, or drugs. *Hansen's disease* - Also known as **leprosy**, this infectious disease primarily affects the skin, peripheral nerves, upper respiratory tract, eyes, and testes, typically presenting with **hypopigmented skin lesions** with loss of sensation. - While it can cause skin nodules (lepromas) and nerve damage leading to joint deformities, the acute onset of tender erythematous shin nodules accompanying a generalized inflammatory response is **not characteristic** of its initial presentation. *Weber-Christian disease* - This is a rare, relapsing, febrile **panniculitis** that causes subcutaneous fat inflammation, often resulting in tender nodules or plaques, but it is not typically associated with prominent arthralgia/arthritis as primary symptoms. - The lesions tend to be more widespread than just the shins and can involve visceral fat, and it lacks the specific association with ankle arthritis seen in erythema nodosum. *Nodular Vasculitis* - This condition is a form of **cutaneous vasculitis** that presents with multiple, tender, often ulcerating nodules, typically on the lower legs, which are characterized by inflammation of blood vessels. - While it involves nodules, it is fundamentally a vasculitic process and usually presents with symptoms of **vascular damage** such as ulcers, purpura, or livedo reticularis, which are not described in the patient's presentation of fever, malaise, and arthritis.

Q: Most common cause of postural hypotension is

Peripheral neuropathy. ***Peripheral neuropathy*** - Damage to **autonomic nerve fibers** in peripheral neuropathy can impair the body's ability to regulate **blood pressure** in response to gravitational changes upon standing [1]. - This leads to a failure of **vasoconstriction** and an inadequate increase in **heart rate**, resulting in a significant drop in blood pressure. *Progressive cerebellar degeneration* - This condition primarily affects **coordination** and **balance**, often leading to **ataxia** and dysarthria. - While it can manifest with various neurological symptoms, **postural hypotension** is not its most common or direct consequence. *Adrenal insufficiency* - **Adrenal insufficiency** results in inadequate production of **cortisol** and **aldosterone**, leading to **hypotension** and **volume depletion**. - While it causes hypotension, it is not the most frequent cause of **postural hypotension** across the general population. *Striatonigral degeneration* - Also known as **multiple system atrophy** (MSA-P), this condition involves the degeneration of neurons in the **striatum** and **substantia nigra**. - It often leads to **parkinsonism** and **autonomic dysfunction**, including postural hypotension, but it is less common overall than peripheral neuropathy as a cause.

Q: Kartagener's syndrome includes all of the following conditions except.

Cystic fibrosis. ***Cystic fibrosis*** - Cystic fibrosis is a genetic disorder affecting mucus and sweat glands, characterized by excessive secretions that lead to blockages in various organs, including the lungs and pancreas. This is a distinct condition from Kartagener's syndrome. - While both conditions can present with chronic respiratory infections, **cystic fibrosis** is caused by mutations in the **CFTR gene**, and is not a component of Kartagener's syndrome or primary ciliary dyskinesia [1]. *Situs inversus* - **Situs inversus** is a characteristic feature of Kartagener's syndrome, occurring in about 50% of affected individuals due to immotile cilia during embryonic development, leading to reversed organ placement. - The abnormal ciliary function prevents the proper rotation of organs during embryogenesis, resulting in **dextrocardia** and the transposition of abdominal organs. *Bronchiectasis* - **Bronchiectasis** is a common complication of Kartagener's syndrome, resulting from chronic inflammation and infection in the airways due to impaired mucociliary clearance. - The inability of cilia to effectively clear mucus and pathogens leads to recurrent infections, chronic inflammation, and irreversible dilation of the bronchi, a hallmark of **bronchiectasis** [1]. *Sinusitis* - **Sinusitis** is frequently observed in patients with Kartagener's syndrome because the dysfunctional cilia in the paranasal sinuses fail to clear mucus and trapped pathogens, leading to chronic inflammation and infection. - This chronic inflammation often presents as **recurrent or persistent sinus infections** and can be severe and difficult to treat due to the underlying ciliary defect.

Q: Which of the following is NOT typically associated with carcinoma of the pancreas?

Hypoglycemia. ***Hypoglycemia*** - **Hypoglycemia** is generally not a direct paraneoplastic syndrome or common complication of typical pancreatic adenocarcinoma. - While **insulinomas** (a rare type of pancreatic neuroendocrine tumor) cause hypoglycemia, they are distinct from pancreatic adenocarcinoma [1]. *Syndrome of inappropriate secretion of ADH* - **SIADH** can be a paraneoplastic syndrome, causing **hyponatremia** due to excessive ADH secretion. - Although less common than in small cell lung cancer, some pancreatic cancers can produce **ectopic ADH**. *Erythrocytosis* - Some tumors, including certain pancreatic cancers, can produce **erythropoietin** leading to **erythrocytosis** (an increase in red blood cell mass). - This is a paraneoplastic syndrome reflecting excessive red blood cell production. *Hypercalcemia* - **Hypercalcemia of malignancy** is a well-recognized paraneoplastic syndrome that can occur with various cancers, including pancreatic cancer. - It can result from **parathyroid hormone-related peptide (PTHrP) production** by the tumor or extensive bony metastases.

Q: A patient complains of loss of visual acuity, deafness, and enlargement of the maxilla.

Paget's disease. ***Paget's disease*** [1] - Characterized by abnormal **bone remodeling**, leading to an increase in bone size and deformity, particularly in the **maxilla**, causing enlargement [1]. - Associated with complications such as **loss of visual acuity** (due to involvement of the skull) and **deafness** from auditory canal changes [1][2], making this the most fitting diagnosis. *Fibrous dysplasia* - Typically presents with **fibrous replacement** of bone, not specifically causing deafness or visual acuity loss. - Customarily involves the **classic "ground glass" appearance** on imaging, not the structural enlargement seen in Paget's disease. *Osteogenesis imperfecta* - Mainly causes **brittle bones** and frequent fractures, not associated with **maxillary enlargement** or changes in auditory function. - Rarely causes visual acuity loss, which is not a feature of this condition. *Osteomalacia* - Primarily characterized by **softening of bones** due to vitamin D deficiency, leading to weakness rather than structural changes like maxillary enlargement. - Symptoms like **bone pain** or **muscle weakness** occur, but not specifically loss of auditory function or visual acuity. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Bones, Joints, and Soft Tissue Tumors, pp. 1192-1194. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Osteoarticular And Connective Tissue Disease, pp. 669-670.

Q: A 20-year-old girl presents with abdominal pain and a purpuric rash all over the body, and the most probable diagnosis is?

Henoch-Schönlein Purpura (HSP). ***Henoch-Schönlein Purpura (HSP)*** - The classic triad of **abdominal pain**, **arthralgia** (often knee and ankle), and a **palpable purpuric rash**, particularly on the lower extremities and buttocks, strongly points to HSP [2]. - This is a **small vessel vasculitis** mediated by IgA immune complex deposition [1], [2]. *Hemolytic Uremic Syndrome (HUS)* - HUS is characterized by a triad of **microangiopathic hemolytic anemia**, **thrombocytopenia**, and **acute kidney injury**, often preceded by bloody diarrhea due to Shiga-toxin producing *E. coli* [3]. - While it can cause abdominal pain and purpura-like lesions (due to thrombocytopenia), the specific presentation here is more indicative of HSP. *Kawasaki Syndrome* - Kawasaki disease is a **medium-vessel vasculitis** primarily affecting young children, characterized by fever, conjunctivitis, oral mucosal changes, rash, lymphadenopathy, and extremity changes [4]. - It does not typically present with the same type of palpable purpuric rash or severe abdominal pain described in this case. *Immune Thrombocytopenic Purpura (ITP)* - ITP is an **isolated thrombocytopenia** (low platelet count) leading to increased bleeding tendency, presenting as petechiae, purpura, and mucosal bleeding. - While purpura is present, the additional finding of significant **abdominal pain** points away from isolated ITP and towards a systemic vasculitis like HSP.

Q: Which of the following conditions can be associated with the presence of erythema nodosum?

All of the options. ***All of the options*** - **Erythema nodosum** is a common panniculitis that can be associated with a wide range of underlying conditions, including infections, inflammatory diseases, and malignancies. - Therefore, **tuberculosis**, **sarcoidosis**, and various types of **malignancies** are all known causes or associations of erythema nodosum [1]. *Tuberculosis* - **Tuberculosis (TB)**, particularly primary infection or reactivation, is a well-established infectious cause of **erythema nodosum**, especially in endemic areas. - The immune response to the **mycobacterial antigens** can trigger the characteristic tender, red nodules, often on the shins. *Sarcoidosis* - **Sarcoidosis** is a systemic granulomatous disease that frequently presents with **erythema nodosum**, particularly in acute forms like **Löfgren's syndrome** [1]. - In such cases, erythema nodosum is often accompanied by **hilar adenopathy** and **arthralgia**. *Malignancies* - Various **malignancies**, including **lymphomas**, **leukemias**, and even some solid tumors, can rarely be associated with **erythema nodosum** as a paraneoplastic phenomenon [1]. - The development of erythema nodosum in these contexts is thought to be due to immune reactions to **tumor antigens** or direct involvement of skin by the malignancy.

Q: Which of the following conditions is associated with acanthosis nigricans?

Type 2 Diabetes Mellitus. Acanthosis nigricans is characterized by velvety, hyperpigmented skin lesions, often in intertriginous areas, and is a common cutaneous marker for insulin resistance, which is central to Type 2 Diabetes Mellitus [1]. The elevated insulin levels stimulate epidermal keratinocytes and dermal fibroblast proliferation, leading to the characteristic skin changes. While malignant acanthosis nigricans is associated with internal malignancies, particularly adenocarcinomas of the gastrointestinal tract (like gastric), it is a less common cause than insulin resistance. This form is usually more extensive and rapidly progressing than the benign variant. Obesity is strongly associated with insulin resistance, making it an indirect cause of acanthosis nigricans. However, acanthosis nigricans is a direct indicator of insulin resistance, which can occur with or without significant obesity. While all listed conditions can be associated with acanthosis nigricans, Type 2 Diabetes Mellitus is the most direct and common condition explicitly linked to the underlying pathophysiology of insulin resistance [1]. Gastric adenocarcinoma causes a malignant form, and obesity is a risk factor for insulin resistance, but T2DM directly reflects the metabolic state responsible for the skin changes.

Q: Which of the following is not seen in chronic regional pain syndrome?

Anhidrosis. ***Anhidrosis*** - **Anhidrosis**, or the **absence of sweating**, is generally *not* a characteristic feature of chronic regional pain syndrome (CRPS); rather, **hyperhidrosis** (excessive sweating) is often observed in the affected limb. - CRPS typically involves sympathetic nervous system dysfunction, which can lead to changes in sudomotor activity, usually resulting in increased rather than decreased sweating. *Severe Pain* - **Severe, unremitting pain** is the cardinal symptom of CRPS and is disproportionate to the initial injury, if any. - The pain is often described as burning, throbbing, or aching and can spread beyond the site of injury. *Swelling* - **Edema** or **swelling** of the affected limb is a common finding in CRPS, especially in the early stages. - This swelling can be accompanied by changes in skin temperature and color due to vasomotor dysfunction. *Osteoporosis* - **Osteoporosis** or **bone demineralization** is a common complication in CRPS, particularly in later stages. - It results from increased osteoclastic activity and reduced bone formation, which can be seen on imaging as patchy or diffuse bone loss.

Question 1

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

Accepted Answer

Uveitis

Answer

Facial palsy

Answer

Fever

Answer

Parotid enlargement

Question 2

25-year-old male having fever and malaise for 2 weeks, arthritis of the ankle joint, and tender erythematous nodules over the shin. What is the diagnosis?

Accepted Answer

Erythema nodosum

Answer

Weber- Christian disease

Answer

Nodular Vasculitis

Answer

Hansen's disease

Question 3

Most common cause of postural hypotension is

Accepted Answer

Peripheral neuropathy

Answer

Progressive cerebellar degeneration

Answer

Adrenal insufficiency

Answer

Striatonigral degeneration

Question 4

Kartagener's syndrome includes all of the following conditions except.

Accepted Answer

Cystic fibrosis

Answer

Situs inversus

Answer

Bronchiectasis

Answer

Sinusitis

Question 5

Which of the following is NOT typically associated with carcinoma of the pancreas?

Accepted Answer

Hypoglycemia

Answer

Hypercalcemia

Answer

Erythrocytosis

Answer

Syndrome of inappropriate secretion of ADH

Question 6

A patient complains of loss of visual acuity, deafness, and enlargement of the maxilla.

Accepted Answer

Paget's disease

Answer

Fibrous dysplasia

Answer

Osteogenesis imperfecta

Answer

Osteomalacia

Question 7

A 20-year-old girl presents with abdominal pain and a purpuric rash all over the body, and the most probable diagnosis is?

Accepted Answer

Henoch-Schönlein Purpura (HSP)

Answer

Hemolytic Uremic Syndrome (HUS)

Answer

Kawasaki Syndrome

Answer

Immune Thrombocytopenic Purpura (ITP)

Question 8

Which of the following conditions can be associated with the presence of erythema nodosum?

Accepted Answer

All of the options

Answer

Tuberculosis

Answer

Sarcoidosis

Answer

Malignancies

Question 9

Which of the following conditions is associated with acanthosis nigricans?

Accepted Answer

Type 2 Diabetes Mellitus

Answer

Obesity

Answer

Gastric adenocarcinoma

Answer

All of the options

Question 10

Which of the following is not seen in chronic regional pain syndrome?

Accepted Answer

Anhidrosis

Answer

Severe Pain

Answer

Swelling

Answer

Osteoporosis

Clinical Manifestations and Presentation of Diseases — MCQs

Clinical Manifestations and Presentation of Diseases — MCQs

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