## **Core Concept**
The question presents a newborn with symptoms including microcephaly, macroglossia, visceromegaly, and severe hypoglycemia. These findings are suggestive of a genetic or metabolic disorder. The combination of physical abnormalities and metabolic derangement points towards a specific diagnosis.
## **Why the Correct Answer is Right**
The correct answer, **Beckwith-Wiedemann Syndrome (BWS)**, is a genetic disorder commonly characterized by overgrowth and an increased risk of childhood cancer. Key features of BWS include:
- **Macroglossia (enlarged tongue)**: This can cause feeding difficulties and airway obstruction.
- **Visceromegaly**: Enlargement of organs such as the liver, spleen, and kidneys.
- **Microcephaly**: Although less common, some cases may present with microcephaly.
- **Hypoglycemia**: Often seen in the neonatal period due to pancreatic cell hyperplasia.
BWS is associated with mutations in the CDKN1C gene or with epigenetic alterations affecting the imprinted genes on chromosome 11p15.5.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option is not provided, but typically, disorders like congenital adrenal hyperplasia can cause hypoglycemia and some physical anomalies but not the full spectrum seen here.
- **Option C:** Without a specific option provided, it's hard to directly refute, but conditions like Sotos syndrome (a different overgrowth disorder) present with macrocephaly rather than microcephaly.
- **Option D:** Similarly, without details, it's challenging to directly address, but Prader-Willi syndrome presents with hypotonia, poor feeding, and later obesity, not typically with the neonatal findings described.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that **Beckwith-Wiedemann Syndrome** is associated with an **increased risk of embryonal tumors**, particularly Wilms tumor (nephroblastoma), and requires regular abdominal ultrasounds for surveillance.
## **Correct Answer:** . **Beckwith-Wiedemann Syndrome**
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