Q1230. Which of the following is true regarding congenital CMV infection?

Q1310. A 9-month-old child presents to the pediatric OPD with anemia, failure to thrive, and hepatomegaly. Histopathological examination shows macrophages with a “crumpled tissue paper–like” cytoplasm due to cerebroside accumulation. What is the most likely diagnosis?

Q1312. A young boy is brought to the pediatric clinic with developmental delay, dystonia, hyperuricemia, and a striking history of self-mutilating behavior such as biting of lips and fingers. There is also a family history of a similar illness in male relatives. Which of the following enzymes is defective in this disorder?

Q1313. A child presents to pediatric OPD with hepatosplenomegaly. On examination histopathological examination shows foam cells in bone marrow due to lipid accumulation. What is the most likely diagnosis?

Q1314. A newborn infant develops vomiting, jaundice, and failure to thrive. On labs UPG Ill to CPG conversion is affected. Which of the following enzyme is likley defective?

Q1315. A 4-month-old infant is brought with poor feeding, failure to thrive, and progressive hypotonia. On examination, the baby has macroglossia and signs of cardiomegaly. Echocardiography reveals hypertrophic cardiomyopathy. Laboratory evaluation shows deficiency of acid maltase. What is the most likely diagnosis?

Q1333. A 3-year-old child presents with upward slanting palpebral fissures, flat nasal bridge with developmental delay has the following facial features. What is the likely diagnosis? Image

Q1390. A mother brings her newborn with complaints of noisy breathing and respiratory distress since birth. There is no sign of any infection. Which of the following findings is most likely to be seen in this child?

Q1458. A male child is brought to the surgery OPD with groin/inguinoscrotal swelling. Examination shows swelling increases when crying or during micturition and descends medially. What is the most likely diagnosis?

Q1466. circular mass through the anus, especially during defecation and crying. The child has chronic diarrhea and poor weight gain since infancy. On examination, the prolapsed mass is moist, concentric, and reducible.What is the most appropriate initial management? Prolapse imagw child

Q1478. fluctuant, and the overlying skin is normal. The child is otherwise stable, with no signs of airway compression. What is the most appropriate immediate management? Image based

Q1510. A 7-year-old child presents with fever for 3 days followed by the appearance of a generalized skin rash. On examination, the rash is pleomorphic and centripetal in distribution. What is the most likely diagnosis?

Q1511. A 4-month-old infant is observed to have a persistent asymmetric tonic neck reflex. Which of the following developmental milestones is most likely to be delayed or not achieved if this reflex persists?

Q1512. A 7-year-old child presents with abdominal pain, palpable purpura on the lower limbs, and arthralgia. There is no history of fever or mucosal changes. What is the most likely diagnosis?

Q1513. A newborn has blue skin, heart rate <88/min, slow irregular respiration, no response on stimulation no flexion on irritability. Calculate Apgar score?

Q1517. A newborn infant presents with bulging anterior fontanelle, constipation, hypotonia, macroglossia, hoarse cry, and delayed resolution of neonatal jaundice. What is the most likely diagnosis?

Q1519. A 4-year-old preschool boy presents with short stature, congenital heart defect, and characteristic facial features. Which of the following is the most likely diagnosis?

Q1520. A 2 year old child is brought to OPD with bluish spots on buccal mucosa. There is history of cough, red eyes and fever. What is the likely diagnosis?

Q1535. A radiograph of a 9 year old child with swelling, fever and bone pain for 2 months shows a diaphyseal lesion of a long bone with permeative/moth-eaten destruction an onion-skin periosteal reaction. ESR is mildly raised Which is the most likely diagnosis?