Septo-optic dysplasia

Septo-optic dysplasia is a rare congenital disorder affecting the optic nerves, brain, and hypothalamic-pituitary system. The name derives from the initially described association between absence of the septum pellucidum and hypoplasia of the optic nerves. It usually occurs sporadically, although rare familial cases have been described, including cases with autosomal recessive or autosomal dominant inheritance; therefore, absence of a relevant family history does not exclude the diagnosis. A distinctive presentation may include optic nerve hypoplasia, midline brain abnormalities, and pituitary hormone deficiencies.

It can present with psychiatric features such as autism spectrum disorder (ASD), anxiety, and behavioural difficulties. ADHD has also been reported, although the evidence for a specific association is more limited. Social communication difficulties may be particularly apparent in children with significant visual impairment. Neuropsychiatric manifestations are usually recognised during childhood.

From a morphologic lens perspective, other features include (but are not limited to):

• Microcephaly

Other characteristic features include developmental delay or intellectual disability, seizures, cerebral palsy, and structural brain abnormalities such as absence of the septum pellucidum, corpus callosum abnormalities, schizencephaly, and other cortical malformations. Endocrine manifestations may include growth hormone deficiency, hypothyroidism, adrenal insufficiency, and abnormalities of pubertal development. Visual impairment can be severe, and nystagmus or strabismus may occur.

Early diagnosis is important to identify and manage potentially significant visual, neurological, developmental, and endocrine complications; to detect and treat pituitary hormone deficiencies promptly; and to provide appropriate developmental, educational, visual, and behavioural support.