Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia.

A term neonate was diagnosed with septo-optic dysplasia (SOD) on the 11th day of life. The patient had hypernatremia, hypoglycemia, and hypothermia. The patient's persistent hypothermia prompted a head ultrasound to examine for abnormalities of the central nervous system, which suggested an absent septum pellucidum. A subsequent brain magnetic resonance imaging confirmed an absent septum pellucidum, and coupled with pituitary dysfunction and bilateral optic nerve hypoplasia, the diagnosis of SOD was made. The authors argue that persistent hypothermia in a neonate may raise the index of suspicion for SOD and thereby facilitate an earlier diagnosis of SOD.