NEET-PG 2017 — Internal Medicine

13 Questions — Page 2 of 2

Q11

The child is having skeletal abnormality in arms and hands. Which possible heart disease is seen in this condition?

Q12

A patient presents with abdominal pain, diarrhea and weight loss. He gives past history of pulmonary TB. Barium film of the patient indicates which of the following condition?

Q13

A 32-year-old woman with a history of multiple hamartomas scattered throughout the small intestine presents to a physician for follow-up. All are true about her diagnosis except?

NEET-PG 2017 - Internal Medicine NEET-PG Practice Questions and MCQs

Question 11: The child is having skeletal abnormality in arms and hands. Which possible heart disease is seen in this condition?

A. ASD (Correct Answer)
B. PDA
C. VSD
D. TOF

Explanation: ***ASD*** - The image shows a child with **phocomelia** or **hypoplastic radius/ulna**, a characteristic skeletal abnormality of the arms and hands, strongly associated with **Holt-Oram syndrome** - **Holt-Oram syndrome** is an **autosomal dominant** disorder caused by mutations in the **TBX5** gene, characterized by upper limb defects (absent/hypoplastic thumb, triphalangeal thumb, radial hypoplasia) and congenital heart defects - The most common cardiac defect is **ASD (ostium secundum type)**, followed by VSD — making ASD the correct answer *PDA* - **Patent ductus arteriosus (PDA)** is a common congenital heart defect but is **not specifically associated** with the upper limb skeletal abnormalities of Holt-Oram syndrome - PDA is classically seen in **premature infants** or associated with **rubella** infection, without specific upper limb skeletal anomalies *VSD* - **Ventricular septal defect (VSD)** is the **second most common** cardiac defect in Holt-Oram syndrome (after ASD), but it is less frequently associated than ASD - VSD is also the most common congenital heart defect overall, but without the specific upper limb skeletal findings, it would not be the first-line answer here *TOF* - **Tetralogy of Fallot (TOF)** comprises pulmonary stenosis, VSD, overriding aorta, and right ventricular hypertrophy - TOF is **not characteristically associated** with Holt-Oram syndrome or upper limb skeletal abnormalities; it is classically associated with cyanotic "tet spells" in infants

Question 12: A patient presents with abdominal pain, diarrhea and weight loss. He gives past history of pulmonary TB. Barium film of the patient indicates which of the following condition?

A. Intestinal obstruction
B. Intestinal perforation
C. Pulled up cecum (Correct Answer)
D. Diverticulum formation

Explanation: ***Pulled up cecum*** - The barium study shows an **abnormally high position** of the cecum, often caused by **adhesions** or **inflammatory processes** from previous infections like TB. - The **String sign of Kantor** (narrowed bowel segments appearing as thin strings) indicates **inflammatory bowel involvement**, commonly seen in **TB enteritis** or **Crohn's disease**. *Intestinal obstruction* - Would show **dilated bowel loops** proximal to the obstruction with **air-fluid levels** and minimal contrast passage beyond the blockage. - The radiological findings described (pulled up cecum and string sign) do not indicate mechanical obstruction. *Intestinal perforation* - Would demonstrate **extraluminal contrast leak** into the peritoneal cavity on barium study, which is not present here. - Clinical presentation would be **acute peritonitis** with severe pain and signs of sepsis, not chronic symptoms. *Diverticulum formation* - Would show **sac-like outpouchings** (diverticula) from the bowel wall, which are **not visualized** on this barium study. - The described findings of **string sign** and **cecal displacement** are inconsistent with diverticular disease.

Question 13: A 32-year-old woman with a history of multiple hamartomas scattered throughout the small intestine presents to a physician for follow-up. All are true about her diagnosis except?

A. STK-11 gene mutation
B. Polyps in jejunum
C. Morbidity due to intestinal obstruction
D. Autosomal recessive (Correct Answer)

Explanation: ***Autosomal recessive*** - Peutz-Jeghers syndrome is inherited in an **autosomal dominant** pattern, not autosomal recessive. This mode of inheritance means that only one copy of the altered gene in each cell is sufficient to cause the disorder. - Approximately 50% of cases are caused by a new **STK11 gene mutation**, while the other 50% are inherited from an affected parent. *STK-11 gene mutation* - **Peutz-Jeghers syndrome** is caused by a germline mutation in the **STK11 (LKB1) gene**, which is a tumor suppressor gene. - This mutation leads to the development of hamartomatous polyps throughout the gastrointestinal tract and an increased risk of various cancers. *Polyps in jejunum* - The hamartomatous polyps in Peutz-Jeghers syndrome can occur anywhere in the gastrointestinal tract, but they are most common in the **small intestine**, including the jejunum. - While they can also be found in the entire GI tract, they are notably present in the jejunum. *Morbidity due to intestinal obstruction* - A common complication and source of morbidity in Peutz-Jeghers syndrome is **intestinal obstruction**, often due to **intussusception** caused by the polyps. - Other gastrointestinal complications include bleeding and abdominal pain.