A toddler with failure to thrive and impaired vision
Differentiation from a broad swath of possibilities
Due to the variety of presentations, the differential diagnosis for septo-optic dysplasia is very large. It includes all causes of failure to thrive, pituitary dysfunction, neurodevelopmental delay, and congenital vision loss. However, it’s important to maintain a high suspicion for the condition when the combination of the common signs and symptoms are present.
In addition to a full history and physical with dilated fundus exam, one of the most valuable tools in the diagnosis and prognosis of a patient with septo-optic dysplasia is an MRI of the brain with and without contrast, including the pituitary gland. In addition to detecting severely hypoplastic optic nerves, an MRI may also reveal the condition of the septum pellucidum and corpus callosum, cerebral hemispheric abnormalities, and pituitary ectopia. The presence or absence of these findings can help predict the clinical course in relation to pituitary function and neurodevelopmental delay.9,11
Laboratory testing of the hypothalamic-pituitary axis is important, as well. Referrals to both an ophthalmologist and endocrinologist are also necessary.6
Management
In septo-optic dysplasia, the goals of treatment are to preserve the patient’s vision, normalize hormone levels, and assist with neurodevelopmental delays.
Ophthalmology
Patients should be followed closely by an ophthalmologist. That’s because a patient may have a component of delayed maturation of vision, which may improve as he develops. Also, those with unilateral or asymmetric vision loss must be monitored and treated for a resulting amblyopia. Patching of the unaffected eye can aid toward this end.1,7
