INI-CET 2021 - Internal Medicine Practice Questions

Q: A karyotyping image is given below. What are the clinical features most likely to be expected in such patients?

Gynecomastia and long limbs. ***Gynecomastia and long limbs*** - The given karyotype shows **47, XXY**, which is characteristic of **Klinefelter syndrome**. - **Gynecomastia** and **long limbs** (tall stature with disproportionately long legs and arms) are classic features of Klinefelter syndrome due to the extra X chromosome's effect on hormonal balance and growth. *Flat occiput* - A **flat occiput** is a characteristic feature of **Down syndrome (Trisomy 21)**, not Klinefelter syndrome. - Down syndrome also presents with other distinct features such as epicanthic folds, a single palmar crease, and intellectual disability. *Webbing of neck and lymphedema* - **Webbing of the neck** and **lymphedema** (especially of the hands and feet) are prominent features of **Turner syndrome (45, X0)**. - Turner syndrome is a sex chromosome aneuploidy affecting females, characterized by short stature, ovarian dysgenesis, and often congenital heart defects like coarctation of the aorta. *Short stature and polydactyly* - While **short stature** can be associated with various genetic conditions (e.g., Turner syndrome, achondroplasia), it is generally **not a primary feature of Klinefelter syndrome**, which typically involves tall stature. - **Polydactyly** (extra fingers or toes) is a feature of several genetic syndromes, such as Patau syndrome (Trisomy 13) or Bardet-Biedl syndrome, and is not associated with Klinefelter syndrome.

Q: Which of the following is not likely to be seen in a patient with Paroxysmal Nocturnal Hemoglobinuria (PNH)?

Leukemia. Leukemia - While PNH can transform into **acute myeloid leukemia (AML)** in a small percentage of cases, it is not a common or direct presentation, making it the *least likely* immediate finding among the options. - The primary pathophysiology of PNH involves a defect in hematopoietic stem cells leading to complement-mediated destruction, not malignant proliferation of myeloid or lymphoid cells as seen in leukemia. *Thrombosis* - **Thrombosis** is a major cause of morbidity and mortality in PNH, occurring due to complement activation and platelet activation on the surface of GPI-deficient cells. - It most commonly affects unusual sites like the **hepatic** or **mesenteric veins**, and cerebral venous sinuses. *Aplastic anemia* - **Aplastic anemia** is closely associated with PNH, as both with conditions can arise from a defect in hematopoietic stem cells. - PNH clones are often detectable in patients with aplastic anemia, and some cases of PNH evolve from or into aplastic anemia. *Hemolysis* - **Hemolysis** is a hallmark of PNH, caused by the absence of **GPI-anchored proteins (CD55 and CD59)** on red blood cells, making them susceptible to complement-mediated destruction [1]. - This leads to intravascular hemolysis, resulting in characteristic symptoms like **dark urine** (hemoglobinuria), especially in the morning [1].

Q: A 45-year-old male patient presented with a history of bilateral lower limb weakness, which progressed to his upper limbs in a year. On examination, he had weakness in both lower limbs and wasting in the left upper limb. Babinski sign was positive and the deep tendon reflexes were hyperactive. He has no sensory loss or any autonomic dysfunction. What is the likely diagnosis?

ALS. ***ALS*** - This patient exhibits a classic combination of **upper motor neuron (UMN)** signs (hyperactive deep tendon reflexes, positive Babinski sign) and **lower motor neuron (LMN)** signs (weakness, wasting), along with progressive limb weakness [1], [2]. These findings are characteristic of **amyotrophic lateral sclerosis (ALS)**, especially with the sparing of sensory and autonomic function [1]. - ALS is fundamentally a **motor neuron disease** that affects both UMNs and LMNs, leading to progressive muscle weakness without significant sensory deficits [1]. *GBS* - **Guillain-Barré Syndrome (GBS)** typically presents with **acute, ascending paralysis** and **areflexia** or hyporeflexia, which contradicts the hyperactive reflexes and progressive, chronic nature observed in the patient. - While GBS causes motor weakness, it is primarily a demyelinating neuropathy affecting the peripheral nervous system and usually spares upper motor neuron signs. *MS* - **Multiple sclerosis (MS)** is characterized by **demyelinating lesions** in the central nervous system, leading to a wide variety of neurological deficits, often with sensory disturbances, visual problems, and bladder dysfunction. - While MS can cause motor weakness and hyperreflexia, it usually presents with a relapsing-remitting course and significant sensory symptoms, which are absent in this patient. *Tropical spastic paraparesis* - **Tropical spastic paraparesis** primarily causes **progressive spasticity and weakness** in the lower limbs, indicative of central nervous system involvement, often linked to **HTLV-1 infection**. - While it features upper motor neuron signs, it typically does not involve the prominent muscle wasting and lower motor neuron signs observed in this patient.

Q: A 62-year-old male patient with heart failure is scheduled for a heart transplant. His renal function test is deranged, and haemoglobin is $6 \mathrm{gm} \%$. The physician ordered 2 units of whole blood. Four hours after transfusion, he developed severe respiratory distress. On examination, he is hypoxemic, has tachycardia and his mean arterial pressure is elevated. Which of the following are the best investigations for the above scenario? 1. Chest X-ray 2. Brain natriuretic peptide (BNP) level 3. Absolute neutrophil count 4. Leucocyte antibodies 5. Platelets

1 and 2. ***1 and 2*** - A **Chest X-ray** would help identify signs of **pulmonary edema** and **cardiomegaly** [1], which are characteristic of transfusion-associated circulatory overload (**TACO**) due to his underlying heart failure exacerbated by fluid from the transfusion. [2] - An elevated **Brain Natriuretic Peptide (BNP) level** is a key biomarker for heart failure [1] and would support a diagnosis of **TACO** by indicating increased ventricular stretch and volume overload. *3 and 5* - An **absolute neutrophil count** is primarily relevant for assessing infection or inflammatory conditions, which are not the primary focus given the acute respiratory distress post-transfusion in a heart failure patient. - **Platelets** are important for coagulation assessments but do not directly explain acute respiratory distress and hypoxemia in the context of post-transfusion events like TACO. *4 and 5* - **Leukocyte antibodies** (such as anti-HLA antibodies) are typically investigated in cases of **transfusion-related acute lung injury (TRALI)**, but the elevated blood pressure and underlying heart failure point more strongly towards **TACO**. - **Platelets** are not a primary investigation for acute respiratory distress following transfusion in a patient with heart failure. *2 only* - While an elevated **BNP level** is highly indicative of heart failure exacerbation and TACO [1], a **Chest X-ray** is also crucial for visualizing the pulmonary edema and assessing the extent of circulatory overload [2]. - Relying solely on BNP might miss co-occurring pulmonary issues or provide an incomplete picture of the patient's acute respiratory distress.

Question 1

A karyotyping image is given below. What are the clinical features most likely to be expected in such patients?

Accepted Answer

Gynecomastia and long limbs

Answer

Flat occiput

Answer

Webbing of neck and lymphedema

Answer

Short stature and polydactyly

Question 2

Which of the following is not likely to be seen in a patient with Paroxysmal Nocturnal Hemoglobinuria (PNH)?

Accepted Answer

Leukemia

Answer

Thrombosis

Answer

Aplastic anemia

Answer

Hemolysis

Question 3

A 45-year-old male patient presented with a history of bilateral lower limb weakness, which progressed to his upper limbs in a year. On examination, he had weakness in both lower limbs and wasting in the left upper limb. Babinski sign was positive and the deep tendon reflexes were hyperactive. He has no sensory loss or any autonomic dysfunction. What is the likely diagnosis?

Accepted Answer

ALS

Answer

GBS

Answer

MS

Answer

Tropical spastic paraparesis

Question 4

A 62-year-old male patient with heart failure is scheduled for a heart transplant. His renal function test is deranged, and haemoglobin is $6 \mathrm{gm} \%$. The physician ordered 2 units of whole blood. Four hours after transfusion, he developed severe respiratory distress. On examination, he is hypoxemic, has tachycardia and his mean arterial pressure is elevated. Which of the following are the best investigations for the above scenario?

1. Chest X-ray
2. Brain natriuretic peptide (BNP) level
3. Absolute neutrophil count
4. Leucocyte antibodies
5. Platelets

Accepted Answer

1 and 2

Answer

3 and 5

Answer

4 and 5

Answer

2 only

INI-CET 2021 — Internal Medicine