Radiologic features of septo-optic dysplasia plus syndrome
The present case has been reported in the journal Neurology.

A 17-month-old boy showing features of global developmental delay and visual impairment, despite physiologic head circumference growth (between the 50th and 85th centile), was admitted for investigations. On examination, he appeared alert, with pale optic discs, horizontal jerk nystagmus, spasticity, and small genitalia.

MRI brain (figure) excluded hydrocephalus, demonstrating instead hallmarks of neuronal migration disorder. Besides schizencephaly, multiple midline abnormalities were noticed, such as optic nerve hypoplasia and achiasmia (deficient chiasmal decussation), pituitary hypoplasia, and absence of septum pellucidum.

Hormonal tests demonstrated panhypopituitarism; hence care was transferred to the septo-optic dysplasia (SOD) multidisciplinary group for management of SOD plus syndrome.

Source: https://pxmd.co/Q1Jkl
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