A 6-day old neonate presented to NICU with respiratory depression, poor feeding and persistent occurrence of seizures. The child was born at 39 weeks gestation by spontaneous vaginal delivery to healthy parents O/E: – High forehead with unslanting palpebral fissures Hypoplastic supraorbital ridges Epicanthal folds. Depressed nasal bridge with long philtrum Hearing loss Liver dysfunction, polycystic kidneys and patent ductus aeriosus were also present MRI of the brain. Which of the following entity will be found to be increased in the serum of the baby: –
A 6-day old neonate presented to NICU with respiratory depression, poor feeding and persistent occurrence of seizures. The child was born at 39 weeks gestation by spontaneous vaginal delivery to healthy parents O/E: – High forehead with unslanting palpebral fissures Hypoplastic supraorbital ridges Epicanthal folds. Depressed nasal bridge with long philtrum Hearing loss Liver dysfunction, polycystic kidneys and patent ductus aeriosus were also present MRI of the brain. Which of the following entity will be found to be increased in the serum of the baby: –
π‘ Explanation
**Core Concept**
The underlying condition in this neonate is a congenital disorder characterized by multiple congenital anomalies, including physical and developmental abnormalities, and is caused by an excess of a specific growth factor during fetal development.
**Why the Correct Answer is Right**
The condition described is consistent with Beckwith-Wiedemann Syndrome (BWS), a growth disorder that occurs due to overexpression of the insulin-like growth factor 2 (IGF2) gene. IGF2 is a protein that stimulates cell growth and proliferation. The excess IGF2 is thought to be responsible for the characteristic physical features and developmental abnormalities seen in BWS, including the high forehead, unslanting palpebral fissures, hypoplastic supraorbital ridges, epicanthal folds, and depressed nasal bridge. The increased IGF2 also leads to overgrowth of various organs, including the liver, kidneys, and ductus arteriosus.
**Why Each Wrong Option is Incorrect**
**Option A:**
This option is incorrect because it does not match the clinical presentation of BWS. Instead, it suggests a condition characterized by a different set of physical features and developmental abnormalities.
**Option B:**
This option is incorrect because it is associated with a different genetic disorder that affects the development of the brain and spine.
**Option C:**
This option is incorrect because it is associated with a different genetic disorder that affects the development of the eyes and brain.
**Clinical Pearl / High-Yield Fact**
Beckwith-Wiedemann Syndrome is a growth disorder that is associated with an increased risk of childhood cancer, particularly Wilms tumor, and is also linked to an increased risk of neurodevelopmental disorders.
**Correct Answer:** D. IGF2
β Correct Answer: A. VLCFAs
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