Sneddon Syndrome is a rare neurological disorder caused by an underlying genetic abnormality, characterized by the presence of livedo reticularis and stroke-like episodes. It is believed to be caused by a mutation in the PROS1 gene, which encodes a protein involved in coagulation.
Diagnosis of Sneddon Syndrome is based on clinical presentation, including livedo reticularis and stroke-like episodes, as well as laboratory testing to identify the presence of the PROS1 gene mutation.
Differential diagnosis of Sneddon Syndrome includes other genetic conditions associated with livedo reticularis, such as Fabry disease, as well as other conditions that can cause stroke-like episodes, such as cerebrovascular disease, antiphospholipid syndrome, and migraine.
Treatment of Sneddon Syndrome is supportive and may include anticoagulants to reduce the risk of stroke-like episodes, as well as medications to reduce inflammation and improve circulation.
The prognosis for Sneddon Syndrome is generally good, with most patients living a normal life span. However, the risk of stroke-like episodes may increase with age, so it is important to be vigilant in monitoring for these episodes. Additionally, some patients may experience progressive neurologic decline over time.