Child with hyperammonemia, later develops pancreatitis and basal ganglia stroke. He may have:
## **Core Concept**
The question describes a child with symptoms of hyperammonemia, pancreatitis, and basal ganglia stroke. This combination of symptoms suggests a disorder of amino acid metabolism. Specifically, it points towards a condition that affects the body's ability to process certain amino acids, leading to the accumulation of toxic substances.
## **Why the Correct Answer is Right**
The correct answer, **D. Homocystinuria**, is a genetic disorder characterized by the accumulation of homocysteine and its metabolites due to an enzyme deficiency involved in methionine metabolism. This condition can lead to:
- **Hyperammonemia**: Due to the secondary inhibition of carbamyl phosphate synthetase by homocysteine or its metabolites.
- **Pancreatitis**: Homocysteine and its metabolites can be toxic to the pancreas.
- **Basal ganglia stroke**: The condition is known to cause vascular events, including strokes, particularly in the basal ganglia, due to the prothrombotic state induced by homocysteine.
## **Why Each Wrong Option is Incorrect**
- **Option A:** While disorders of urea cycle defects can cause hyperammonemia, they are less commonly associated directly with pancreatitis and basal ganglia strokes as primary manifestations.
- **Option B:** This option might relate to another metabolic disorder, but it does not specifically match the constellation of symptoms described.
- **Option C:** Similarly, this could refer to another metabolic issue but does not directly correlate with the combination of hyperammonemia, pancreatitis, and basal ganglia stroke.
## **Clinical Pearl / High-Yield Fact**
A key point to remember is that **Homocystinuria** often presents with a combination of **ocular**, **skeletal**, and **vascular** abnormalities. A classic clinical feature is **ectopia lentis** (lens dislocation), which is a hallmark but not listed among the symptoms. The condition is due to deficiency of cystathionine beta-synthase, and treatment involves vitamin B6 (pyridoxine) supplementation, which is effective in about 50% of patients.
## **Correct Answer:** **D. Homocystinuria**