A neonate presents with recurrent seizures with hypocalcemia, recurrent infections. What is the diagnosis?
**Core Concept**
Di George syndrome is a congenital disorder characterized by hypocalcemia, recurrent infections, and congenital heart defects due to thymic hypoplasia and parathyroid gland aplasia.
**Why the Correct Answer is Right**
The neonate presents with hypocalcemia, recurrent infections, and seizures, which are classic manifestations of Di George syndrome. This condition is caused by a deletion of chromosome 22q11.2, leading to thymic hypoplasia and parathyroid gland aplasia. The absence of parathyroid glands results in hypocalcemia, while thymic hypoplasia impairs the development of T-lymphocytes, leading to recurrent infections. The seizures are likely secondary to hypocalcemia.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect as it does not match the clinical presentation of Di George syndrome.
**Option B:** This option is incorrect as it does not account for the recurrent infections and seizures seen in Di George syndrome.
**Option C:** This option is incorrect as it does not match the clinical presentation of Di George syndrome.
**Clinical Pearl / High-Yield Fact**
Di George syndrome is a classic example of a congenital disorder resulting from a chromosomal deletion, highlighting the importance of genetic testing in neonates with congenital anomalies.
**Correct Answer:** C. Di George syndrome.