JUL 12, 2018
This retrospective study evaluated the sensitivity and specificity of brain MRI to predict endocrinopathy in children with optic nerve hypoplasia (ONH).
Investigators reviewed the medical records from 77 patients with a documented diagnosis of ONH or septo-optic dysplasia. MRI and endocrinology results were reviewed by masked examiners.
The overall incidence of abnormal pituitary on MRI was 35.1%, and endocrine abnormalities were observed in 37.7%. The sensitivity and specific of brain MRI as signs of endocrinopathy were 67.9% and 83.3%, respectively.
This study was limited by its retrospective nature and small sample size.
The American Association of Pediatric Ophthalmology and Strabismus recommends that all children with a diagnosis of ONH undergo a brain MRI and an evaluation with an endocrinologist.
This study shows that abnormal MRI findings do not have adequate sensitivity to predict endocrinopathy, nor does a normal MRI rule out possible endocrine abnormalities. This suggests that MRI can be deferred in children with ONH if the endocrine work up is negative and the neurological exam is normal. An endocrine workup should be performed for all patients with ONH, even if the MRI is normal.