A 14-ycars-old girl on exposure to cold has pallor of extremities followed by pain and cyanosis. In later ages of life she is prone to develop:
**Core Concept**
Benedict's syndrome is not relevant to this question. The described symptoms in a 14-year-old girl suggest peripheral artery disease due to atherosclerosis. This condition is often associated with a genetic disorder, such as **Ehlers-Danlos syndrome (EDS)** or **Homocystinuria**. However, the most relevant condition in this context is **Homocystinuria**.
**Why the Correct Answer is Right**
Homocystinuria is a genetic disorder caused by a deficiency of cystathionine beta-synthase (CBS). This enzyme is crucial for the metabolism of **homocysteine** to cystathionine. A deficiency in CBS leads to an accumulation of homocysteine in the blood, which causes endothelial damage and atherosclerosis. The condition often presents in childhood or adolescence with symptoms such as **pallor of extremities followed by pain and cyanosis** upon exposure to cold. In later life, individuals with Homocystinuria are prone to develop **thromboembolic events**, including **stroke** and **pulmonary embolism**.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is not relevant to the question. There is no clear link between the described symptoms and **Benedict's syndrome**.
**Option B:** This option is not accurate. **Ehlers-Danlos syndrome (EDS)** is a genetic disorder characterized by hypermobile joints, but it is not primarily associated with the described symptoms.
**Option C:** This option is not correct. **Fabry disease** is a genetic disorder caused by a deficiency of alpha-Galactosidase A, leading to accumulation of globotriaosylceramide. While it can cause cardiovascular complications, the described symptoms are not typical of Fabry disease.
**Option D:** This option is not relevant. There is no clear link between the described symptoms and **Huntington's disease**.
**Clinical Pearl / High-Yield Fact**
Individuals with Homocystinuria are often asymptomatic until adulthood, when they may experience thromboembolic events. It is essential to consider this condition in patients with unexplained vascular events, especially in those with a family history of Homocystinuria.
**Correct Answer: C. Fabry disease**