Pediatric Septo-optic Dysplasia

What is Pediatric Septo-optic Dysplasia?

Septo-optic dysplasia is a rare congenital (present at birth) disorder that happens during early brain development.

Septo-optic dysplasia causes abnormal development of the corpus callosum and septum pellucidum – the structures that separate the right and left halves of the brain. This can lead to abnormal brain development, intellectual disabilities and neurological problems.

Children with septo-optic dysplasia also have underdeveloped optic nerves, which carry information from the eyes to the brain and determine vision. Septo-optic dysplasia also causes a child to have an underdeveloped pituitary gland, which means they may not produce enough of the critical hormones needed to regulate growth, blood sugar and blood pressure.

What are the signs and symptoms of Pediatric Septo-optic Dysplasia?

• Blindness
• Hypotonia (low muscle tone)
• Inward and outward deviation of the eyes
• Rapid eye movement, back and forth
• Seizures

What are the causes of Pediatric Septo-optic Dysplasia?

It is not known if septo-optic dysplasia is caused by a genetic mutation or environmental factors, such as a virus or reaction to a medication.