From the Guidelines
Sturge-Weber syndrome is typically a sporadic condition, but it can be inherited in some cases.
Inheritance Pattern
The inheritance pattern is usually autosomal dominant, meaning that a single copy of the mutated gene is enough to cause the condition 1. However, most cases are caused by a spontaneous mutation in the GNAQ gene, and the risk of inheriting the condition from an affected parent is low. Some key points to consider include:
- Genetic counseling is recommended to assess the risk of inheritance and to discuss the potential for prenatal testing.
- The prevalence of Sturge-Weber syndrome is estimated to be around 1-9/100,000 1.
- Neurology, neuroimaging, and ophthalmology are important aspects of managing the condition 1.
- Port-wine birthmarks are a common feature of the condition 1.
From the Research
Inheritance Pattern of Sturge-Weber Syndrome
- Sturge-Weber syndrome is a rare, sporadic congenital neurocutaneous disorder [ 2, 3,4,5,6 ]
- The syndrome is caused by a somatic activating mutation in GNAQ 5 or, less commonly, GNA11 gene 6
- The mutation is thought to occur during embryonic development, leading to the formation of abnormal capillary venous vessels in the leptomeninges of the brain and choroid 5
- The syndrome is not inherited in an autosomal dominant or recessive pattern, but rather occurs sporadically due to the somatic mutation 2, 3, 4, 5, 6
- The severity and extent of presentation are determined by the developmental time point at which the mutations occurred 5
Key Characteristics
- The syndrome is characterized by a facial port-wine stain, leptomeningeal angiomatosis, and glaucoma 4, 5, 6
- Seizures are the most common neurological manifestation and typically present in the first months of life 4
- Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis 4
- Standard treatment for Sturge-Weber syndrome includes laser treatment for the port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma 4, 6