Megalencephaly is a neurological disorder in which the brain is larger than normal, often weighing two to three standard deviations above the average weight for age and gender. The condition can occur on its own, or it can be associated with other disorders, such as autism, or genetic syndromes. Megalencephaly can be diagnosed prenatally with an ultrasound or MRI, or after birth during a physical exam or brain imaging test.

As you can imagine, a diagnosis of megalencephaly can be overwhelming for families, especially when they don't know much about the condition or how it will affect their loved one's life.

Symptoms and Causes of Megalencephaly

Symptoms of megalencephaly may vary depending on the underlying cause. Some children with megalencephaly have no symptoms at all, while others may experience developmental delays, intellectual disability, seizures, and motor problems. In some cases, megalencephaly is associated with a high risk of developing brain tumors, which can also cause symptoms such as headaches, nausea, and changes in vision.

Megalencephaly can have genetic or non-genetic causes. Genetic causes may include mutations in genes that regulate brain growth and cell division. Non-genetic causes may include metabolic disorders, infections, or head injury. However, in many cases, the cause of megalencephaly is unknown.

Impact on Families

Families of children with megalencephaly may face a number of challenges, including frequent medical appointments, financial strain, and emotional stress. Caring for a child with megalencephaly can also require significant lifestyle adjustments, such as modifying the home environment, providing specialized care, and coordinating with various healthcare providers.

It’s common for parents to feel overwhelmed, and sometimes even isolated, especially if they don't have access to resources or support networks. However, it's important for families to know that they're not alone. For any family that’s experiencing complex medical conditions such as megalencephaly, it’s important to seek medical advice and connect with organizations that can offer support and guidance. You have a community of caring individuals who are ready to assist you every step of the way.

At the Josh Rojas Foundation, it’s our mission to provide support and resources for families who have suddenly lost a child. We provide compassion and empathy during a difficult time, share invaluable resources to help process grief, provide information about megalencephaly, offer monetary recognition of the youth in our community, and so much more.

To learn more, we invite you to contact us. We’re located in Rochester, NY and can be reached by calling 585-629-6660 or by sending an email through our secure contact page.