FMGE 2025 Practice Questions

Q: A patient has a long arm span, hypermobile joints and ectopia lentis. What is the defective protein?

Fibrillin-1. ***Fibrillin-1***- **Marfan syndrome**, characterized by a **long arm span (arachnodactyly)**, **joint hypermobility**, and superiorly displaced **ectopia lentis (hypermobile lens)**, results from mutations in the *FBN1* gene, which codes for **Fibrillin-1**.- **Fibrillin-1** is a critical component of connective tissue **microfibrils** found in the suspensory ligaments of the eye, periosteum, and aortic media, explaining the systemic clinical manifestations.*Collagen*- Defects in **Collagen** (e.g., Type I, III, or V) are associated with **Osteogenesis Imperfecta** (brittle bones) or **Ehlers-Danlos syndrome** (severe skin and joint hyperlaxity) [1].- While Ehlers-Danlos syndrome can cause joint hypermobility, the classic combination with **ectopia lentis** strongly differentiates Marfan syndrome from primary collagenopathies [1].*Elastin*- Mutations in the **Elastin** gene (ELN) are primarily linked to conditions like **Williams syndrome**, which typically presents with **supravalvular aortic stenosis** and characteristic facial features [2].- **Elastin** provides rubber-like properties to tissues, but its primary defect does not explain the specific loss of structural integrity leading to superiorly displaced **ectopia lentis** seen in Marfan syndrome [2].*Keratin*- **Keratin** proteins are intermediate filaments crucial for mechanical stability in **epithelial cells** (skin, hair, nails).- Defects in keratin primarily cause **epidermolysis bullosa** or various forms of **ichthyosis** (skin blistering/scaling), and do not lead to the systemic skeletal or ocular connective tissue anomalies observed here.

Q: A patient presents with progressive shortness of breath for the last 6 months, accompanied by dry cough. Auscultation reveals bilateral basal end-inspiratory crepitations. There is no history of fever, joint pain, or occupational exposure. What is the diagnosis?

IPF. ### IPF - The presentation of progressive **shortness of breath**, dry cough, and characteristic **bilateral basal end-inspiratory crepitations** (**Velcro crackles**) strongly suggests Idiopathic Pulmonary Fibrosis [1]. - IPF is a diagnosis of exclusion, supported here by the absence of fever, joint pain, or known occupational/environmental exposures (making it **idiopathic**) [1][2]. *Cor-pulmonale* - *Cor-pulmonale* is **right ventricular failure** secondary to pulmonary hypertension caused by underlying lung disease, and typically presents with signs of systemic venous congestion (e.g., peripheral edema, elevated JVP). - While advanced IPF can *cause* cor-pulmonale, it is not the primary process causing the initial restrictive pattern and bilateral basal **crepitations**. *Sarcoidosis* - Sarcoidosis often involves **bilateral hilar lymphadenopathy** and systemic features (e.g., skin or eye findings), which are absent in this presentation [4]. - Pulmonary fibrosis associated with sarcoidosis typically has an **upper lobe predominance**, unlike the basal findings described here [4]. *Hypersensitivity pneumonitis* - This diagnosis requires a history of exposure to an inhaled **antigen** (e.g., birds, molds) in the home or workplace, which is explicitly excluded in the patient history [3]. - Acute or subacute forms of HP often involve systemic symptoms like fever and chills, which are not mentioned in this slowly progressive presentation [3].

Q: A patient presents with contralateral face, arm, and leg weakness. NCCT shows intracerebral hemorrhage (ICH). What is the most likely location of the CNS bleed?

Basal ganglia. ***Basal ganglia*** - The **basal ganglia**, particularly the **putamen**, is the most common site for hypertensive intracerebral hemorrhage, which aligns perfectly with the deep parenchymal bleed seen on the provided NCCT scan. - A lesion in this location classically damages the adjacent **internal capsule**, where motor fibers for the face, arm, and leg are tightly packed, resulting in **contralateral hemiparesis**. *Midbrain* - A midbrain hemorrhage would present with distinct cranial nerve deficits, most notably **oculomotor nerve (CN III) palsy**, causing a "down and out" eye position, ptosis, and a dilated pupil. - Other characteristic signs include altered consciousness and **vertical gaze palsy** (Parinaud syndrome), which are absent in this patient's pure motor presentation. *Pons* - Pontine hemorrhages have a catastrophic presentation, typically causing a rapid descent into **coma**, **quadriplegia**, and classic **pinpoint pupils** due to disruption of descending sympathetic pathways. - The patient's presentation of contralateral hemiparesis without coma or pupillary changes is inconsistent with a pontine bleed. *Medulla* - Medullary hemorrhages are rare and cause specific brainstem syndromes like **Wallenberg syndrome**, characterized by vertigo, nystagmus, dysphagia, and ipsilateral facial numbness. - These syndromes involve complex crossed sensory and motor deficits, not the uniform contralateral motor weakness described in the question.

Q: What is the management of undulant fever?

Doxycycline plus rifampicin. ***Doxycycline plus rifampicin***- This is the **standard and preferred oral combination regimen** for treating **Brucellosis** (undulant fever), typically administered for 6 weeks [1].- The combination is crucial because it uses antibiotics that penetrate macrophages and have a **synergistic effect**, significantly reducing the risk of relapse compared to monotherapy.*Doxycycline*- **Doxycycline** is the cornerstone of treatment due to its excellent **intracellular penetration**, but **monotherapy** is associated with high rates of **relapse**.- It must be combined with a second agent (like **rifampicin** or **streptomycin**) to achieve adequate cure rates and prevent recurrence.*Doxycycline with azithromycin*- While macrolides like **azithromycin** show *in vitro* activity against *Brucella*, clinical data supporting this combination as a first-line treatment are generally lacking.- This combination is **less effective** and not recommended by major professional guidelines compared to regimens using **rifampicin** or aminoglycosides.*Doxycycline plus ceftriaxone*- **Ceftriaxone** (a third-generation cephalosporin) is used primarily for complicated brucellosis, especially **neurobrucellosis** (often added to the standard regimen).- It is **not recommended** as part of the standard initial **oral** regimen for uncomplicated brucellosis due to inferior efficacy compared to rifampicin.

Q: A patient has cheilosis with koilonychia and anemia. Diagnosis is?

Plummer-Vinson syndrome. ***Plummer-Vinson syndrome***- This syndrome is defined by the classic triad of **dysphagia** (due to esophageal webs), **iron deficiency anemia**, and mucosal changes, which include **cheilosis** (angular stomatitis) and **koilonychia** (spoon nails) [1].- It is most common in middle-aged women and results from chronic, severe **iron deficiency**, which causes the epithelial atrophy leading to the observed symptoms [1].*Esophageal cancer*- While **Plummer-Vinson syndrome** is a pre-malignant condition that increases the risk of **esophageal squamous cell carcinoma**, the current presentation describes the syndrome's classic signs, not confirmed malignancy.- Malignancy typically causes progressive **dysphagia** and severe **weight loss**, and the specific triad of **cheilosis** and **koilonychia** is not the primary diagnostic feature.*Achalasia cardia*- This is a **primary esophageal motility disorder** characterized by the poor relaxation of the **lower esophageal sphincter (LES)** and aperistalsis of the esophageal body.- The main symptoms are **dysphagia** (to both solids and liquids) and **regurgitation**, but it is not associated with the systemic features of **iron deficiency anemia**, **cheilosis**, or **koilonychia**.*Tylosis palmaris*- **Tylosis palmaris** is a form of **palmoplantar keratoderma**, an inherited disorder causing marked hyperkeratosis (thickening) of the palms and soles.- Although it is strongly associated with an increased risk for **esophageal squamous cell carcinoma** (Howel-Evans syndrome), it does not cause the specific features of **iron deficiency anemia**, **cheilosis**, and **koilonychia**.

Q: Which classification is used for Barrett esophagus?

Prague classification. ***Prague classification***- This classification is specifically designed for the standardized endoscopic assessment and documentation of **Barrett esophagus** (BE).- It uses two main parameters: the maximal extent (M) and the circumferential extent (C) of the columnar-lined esophagus, ensuring consistent reporting for surveillance.*Savary-Miller classification*- This classification system is used to grade the severity of **reflux esophagitis** (erosive esophagitis), not Barrett esophagus.- It categorizes esophageal mucosal injury based on the extent and depth of erosions.*Johnson classification*- This classification is generally not a recognized standard system for classifying key GI pathology like Barrett esophagus, unlike established systems such as the **Prague classification** or **Los Angeles classification** for reflux esophagitis.- *Note: A Johnson classification exists for pediatric hip dysplasia, but it is unrelated to GI endoscopy.* *Forrest classification*- This system is used exclusively to classify the appearance of **peptic ulcer bleeding** (or other upper GI bleed sources) seen during endoscopy.- It helps predict the risk of rebleeding and guides interventions, such as those performed for ulcers with adherent clots or active oozing.

Q: What defect is seen in Bernard Soulier syndrome?

Deficiency of GpIb receptors. ***Deficiency of GpIb receptors***- **Bernard-Soulier syndrome (BSS)** is an autosomal recessive disorder caused by defective or deficient **Glycoprotein Ib (GpIb)** [1]; this receptor is necessary for platelet adhesion to the subendothelium via **von Willebrand factor (vWF)** [1], [2]. - This defect results in dysfunctional primary **hemostasis**, causing bleeding and characteristic findings like **giant platelets** (macrothrombocytopenia) and mild to severely prolonged **bleeding time**. *Deficiency of GpIIb/IIIa receptor*- Deficiency or dysfunction of the **GpIIb/IIIa receptor** (fibrinogen receptor) causes **Glanzmann thrombasthenia** [1], which impairs platelet aggregation, not initial adhesion. - In Glanzmann thrombasthenia, platelets fail to aggregate in response to most agonists (like ADP or thrombin), but the initial adhesion mediated by GpIb is preserved [1]. *Deficiency of von Willebrand factor*- Deficiency of **von Willebrand factor (vWF)** causes **von Willebrand disease (vWD)**, the most common inherited bleeding disorder. - vWF is the ligand that links GpIb on the platelet to the exposed collagen in the vessel wall [2]; its deficiency is distinct from the receptor deficiency seen in BSS. *Deficiency of ADP receptors*- Deficiency of **ADP receptors** (specifically the P2Y12 receptor) impairs the signal transduction critical for sustained platelet aggregation and granule release [2]. - While affecting primary hemostasis, this congenital receptor deficiency is separate from BSS and is rarely reported; the most common interference with this receptor is therapeutic (**clopidogrel**). **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 668-669. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, p. 128.

Q: A child presents with kawasaki disease with multiple small coronary artery aneurysms. Treatment is?

Aspirin for 6 weeks. ***Aspirin for 6 weeks*** - After the acute phase is treated with **IVIG** and high-dose aspirin, the regimen is switched to low-dose aspirin for its **antiplatelet** effects to prevent thrombosis in the affected coronary arteries. - This low-dose therapy is typically continued for 6-8 weeks, at which point a follow-up **echocardiogram** is performed and inflammatory markers (like **ESR** and **CRP**) should have normalized. *Aspirin lifelong* - Lifelong antiplatelet therapy is generally reserved for patients with **large** or **giant** coronary artery aneurysms due to a high risk of **thrombosis** and stenosis. - For small aneurysms, which often resolve, therapy is guided by serial echocardiograms and is not typically lifelong from the outset. *Aspirin for 4 weeks* - A 4-week duration is insufficient, as it may not cover the entire period of coronary wall inflammation and thrombocytosis, which usually peaks in the subacute phase. - The standard follow-up interval for re-evaluation with an **echocardiogram** is at 6-8 weeks, making it logical to continue therapy at least until that point. *Aspirin and clopidogrel for 6 weeks* - **Dual antiplatelet therapy** with aspirin and clopidogrel is recommended for patients with **medium-sized** or **giant** coronary artery aneurysms, not for small aneurysms. - The flowchart provided indicates that for small aneurysms (Z score ≥2.5 to <5), **single antiplatelet therapy** with low-dose aspirin is the appropriate treatment.

Q: The infant is being evaluated for recurrent episodes of seizures. EEG shows Hypsarrhythmia. Which drug is preferred for management?

ACTH. ***ACTH*** - The EEG pattern shown is **hypsarrhythmia**, which is a disorganized, high-amplitude, and chaotic pattern characteristic of **West syndrome** (infantile spasms). - **Adrenocorticotropic hormone (ACTH)** is a first-line therapy for infantile spasms, particularly in cases not associated with tuberous sclerosis, and is effective in stopping spasms and resolving the hypsarrhythmia pattern. *Vigabatrin* - **Vigabatrin** is also a first-line treatment for infantile spasms but is specifically the drug of choice if the underlying cause is **Tuberous Sclerosis Complex (TSC)**. - It carries a risk of causing irreversible **peripheral visual field defects**, which requires careful ophthalmologic monitoring. *Valproate* - **Valproate** is a broad-spectrum antiepileptic drug but is not a first-line treatment for infantile spasms. - Its use is limited in infants due to the significant risk of fatal **hepatotoxicity**, especially in children younger than two years old. *Carbamazepine* - **Carbamazepine** is typically used for focal seizures and is known to be ineffective or may even **worsen** infantile spasms and other generalized epilepsies. - It is not indicated for the treatment of West syndrome due to its potential to exacerbate the seizures.

Q: A patient presents with SOB and fatigue. CXR was done. What is the diagnosis? ![img-18.jpeg](img-18.jpeg)

Asbestosis. ***Asbestosis*** - The chest X-ray demonstrates classic features of asbestosis, including **pleural plaques** (calcifications on the pleura) and diffuse **interstitial fibrosis**, which is most prominent in the **lower lung zones**. - Asbestosis is a type of pneumoconiosis caused by the inhalation of **asbestos fibers**, and these radiographic findings are highly characteristic of long-term exposure. *TB* - Tuberculosis typically presents with findings in the **upper lobes** or apical segments of the lungs, such as **cavitations**, consolidation, or a **Ghon complex**. - The diffuse lower lobe interstitial pattern and pleural plaques seen in this image are not features of a typical TB infection. *Silicosis* - Silicosis is a pneumoconiosis that classically affects the **upper lung zones**, presenting as multiple small, rounded opacities that can coalesce into larger masses. - A characteristic finding, though not always present, is **"eggshell calcification"** of the hilar lymph nodes, which is absent here. Pleural plaques are not a typical feature. *Byssinosis* - Byssinosis, or "brown lung disease," is caused by exposure to cotton dust and often presents with a normal chest X-ray or non-specific findings of hyperinflation. - The diagnosis is primarily clinical, based on a history of chest tightness and dyspnea that improves over the work week. It does not cause the distinct pleural and parenchymal changes seen in asbestosis.

Question 1

A patient has a long arm span, hypermobile joints and ectopia lentis. What is the defective protein?

Accepted Answer

Fibrillin-1

Answer

Keratin

Answer

Elastin

Answer

Collagen

Question 2

A patient presents with progressive shortness of breath for the last 6 months, accompanied by dry cough. Auscultation reveals bilateral basal end-inspiratory crepitations. There is no history of fever, joint pain, or occupational exposure. What is the diagnosis?

Accepted Answer

IPF

Answer

Hypersensitivity pneumonitis

Answer

Sarcoidosis

Answer

Cor-pulmonale

Question 3

A patient presents with contralateral face, arm, and leg weakness. NCCT shows intracerebral hemorrhage (ICH). What is the most likely location of the CNS bleed?

Accepted Answer

Basal ganglia

Answer

Pons

Answer

Midbrain

Answer

Medulla

Question 4

What is the management of undulant fever?

Accepted Answer

Doxycycline plus rifampicin

Answer

Doxycycline

Answer

Doxycycline plus ceftriaxone

Answer

Doxycycline with azithromycin

Question 5

A patient has cheilosis with koilonychia and anemia. Diagnosis is?

Accepted Answer

Plummer-Vinson syndrome

Answer

Esophageal cancer

Answer

Achalasia cardia

Answer

Tylosis palmaris

Question 6

Which classification is used for Barrett esophagus?

Accepted Answer

Prague classification

Answer

Johnson classification

Answer

Forrest classification

Answer

Savary-Miller classification

Question 7

What defect is seen in Bernard Soulier syndrome?

Accepted Answer

Deficiency of GpIb receptors

Answer

Deficiency of GpIIb/IIIa receptor

Answer

Deficiency of ADP receptors

Answer

Deficiency of von Willebrand factor

Question 8

A child presents with kawasaki disease with multiple small coronary artery aneurysms. Treatment is?

Accepted Answer

Aspirin for 6 weeks

Answer

Aspirin for 4 weeks

Answer

Aspirin lifelong

Answer

Aspirin and clopidogrel for 6 weeks

Question 9

The infant is being evaluated for recurrent episodes of seizures. EEG shows Hypsarrhythmia. Which drug is preferred for management?

Accepted Answer

ACTH

Answer

Valproate

Answer

Vigabatrin

Answer

Carbamazepine

Question 10

A patient presents with SOB and fatigue. CXR was done. What is the diagnosis? ![img-18.jpeg](img-18.jpeg)

Accepted Answer

Asbestosis

Answer

Silicosis

Answer

TB

Answer

Byssinosis

FMGE 2025

Biochemistry

Internal Medicine

Pathology

Pediatrics

Radiology