HOME > Weekly Case > Weekly Case
Weekly Case
종결
Case No. 661
2023-07-01~2023-07-31
출제자 : 심용식
Hit : 470
| Period | 2023-07-01~2023-07-31 |
|---|---|
| Diagnosis | Cerebral arteriopathy associated with heterozygous Arg179 ACTA2 mutation |
| Gender |
|
| Age | 3 |
| Clinical information | 3세 여아 Chronic strokes and transient ischemic attacks (TIAs). 진단명 또는 진단명과 관련된 gene의 이름은? |
| Discussion | Selective injection of the ICAs revealed enlargement of the proximal ICAs, as well as straightening and narrowing of the intracranial ICAs with abnormal branches of the ACAs and MCAs. Selective injection of the left vertebral artery demonstrated a lack of normal arborization of the bilateral PCA branches. Angiographic findings were consistent with ACTA2 mutation. ACTA2 mutation results in multi-systemic smooth muscle dysfunction syndrome, which can present as pediatric stroke due to cerebral arteriopathy. An important distinguishing feature from moyamoya vasculopathy is the lack of lenticulostriate collaterals in this condition. |
| Correct answer |
Correct Answer
Semi-Correct Answer |