NEET-PG 2023 - Psychiatry PYQs Practice Questions

Q: What is the most likely diagnosis in an infant who presents with recurrent fractures and multiple bony deformities?

Osteogenesis imperfecta. ***Osteogenesis imperfecta*** - This genetic disorder is characterized by **fragile bones** due to defects in **type I collagen**, leading to recurrent fractures and bony deformities. - Other classic features include **blue sclera**, **dentinogenesis imperfecta**, and **hearing loss**, all stemming from collagen abnormalities. *Achondroplasia* - This is a common cause of **dwarfism** due to a genetic mutation affecting **cartilage formation**, primarily impacting long bone growth. - While it causes short stature and distinct facial features, **recurrent fractures** are not its primary clinical manifestation. *Ehlers-Danlos syndrome* - This group of genetic disorders affects **connective tissues**, resulting in **joint hypermobility**, **skin hyperextensibility**, and tissue fragility. - While it can lead to complications like joint dislocations and vascular issues, **recurrent bony fractures** are not its hallmark; rather, it's connective tissue fragility that is key. *Rickets* - This condition is caused by a **deficiency of vitamin D, calcium, or phosphate**, leading to impaired bone mineralization and bone softening. - It presents with **bowed legs**, **rachitic rosary**, and bone pain, but typically not **recurrent fractures** from fragile bones in infancy, unless severe and prolonged. *Osteopetrosis* - Also known as **marble bone disease**, this genetic disorder causes **abnormally dense bones** due to defective osteoclast function. - While bones are dense, they are paradoxically **brittle and prone to fractures**, but the classic presentation includes **bone sclerosis on X-ray**, **hepatosplenomegaly**, and **cranial nerve compression**, rather than multiple bony deformities typical of osteogenesis imperfecta. [Practice more Psychiatry PYQs on OnCourse]

Q: Chloride level in sweat is used in the diagnosis of which disease?

Cystic fibrosis. ***Cystic fibrosis*** - **Cystic fibrosis** is characterized by a defect in the **CFTR protein**, leading to impaired chloride transport in epithelial cells. - This defect results in abnormally high salt content in sweat, making the **sweat chloride test** the gold standard for diagnosis. *Phenylketonuria* - **Phenylketonuria (PKU)** is a metabolic disorder involving the inability to metabolize **phenylalanine**, leading to its accumulation in the blood. - Diagnosis is typically made via **newborn screening** using blood tests, not sweat chloride levels. *Gaucher's disease* - **Gaucher's disease** is a lysosomal storage disorder caused by a deficiency in the enzyme **beta-glucosidase**, leading to lipid accumulation. - Diagnosis involves enzyme assays from blood or tissue samples, or genetic testing, not sweat chloride analysis. *Osteogenesis imperfecta* - **Osteogenesis imperfecta** is a genetic disorder of **collagen synthesis**, primarily characterized by bone fragility, blue sclerae, and hearing loss. - Diagnosis is based on clinical features, imaging, and genetic testing, with no relevance to sweat chloride levels. *Tay-Sachs disease* - **Tay-Sachs disease** is a lysosomal storage disorder caused by deficiency of **hexosaminidase A**, leading to accumulation of GM2 ganglioside in neurons. - Diagnosis is made through **enzyme assay** or **genetic testing**, not sweat chloride measurement. [Practice more Psychiatry PYQs on OnCourse]

Question 1

What is the most likely diagnosis in an infant who presents with recurrent fractures and multiple bony deformities?

Accepted Answer

Osteogenesis imperfecta

Answer

Achondroplasia

Answer

Rickets

Answer

Ehlers-Danlos syndrome

Answer

Osteopetrosis

Question 2

Chloride level in sweat is used in the diagnosis of which disease?

Accepted Answer

Cystic fibrosis

Answer

Phenylketonuria

Answer

Gaucher's disease

Answer

Osteogenesis imperfecta

Answer

Tay-Sachs disease

NEET-PG 2023 — Psychiatry