Septo-optic dysplasia plus: case report

Case presentation: Female, 3 months old, born preterm, weighing 2285 g, by vaginal delivery. With 25 days of life, she was hospitalized due to jaundice, with total bilirubin at admission 23 mg/dL, dehydration and low weight gain. The infant remained on phototherapy for one day, partial improvement remaining, however, dehydrated, presenting hypernatremia, serum sodium levels reaching 170 mmol/L. A free water deficit started treatment, but there little response, the patient maintained high had a worsening renal function (GFR 15.6). Laboratory tests ACTH 19; cortisol 0.32; TSH 9.35; prolactin 95.9. Lumbar puncture performed, which showed no changes, cranial CT, hyperdense focus in left frontal region adjacent horn right lateral ventricle, without mass effect or edema, undetermined etiology, probably corresponding foci calcification, not totally excluding small areas bleeding. Ill-defined hypodensity located parietal ventricle. Obliteration ventricle apparent obliteration cerebral sulci this side. Elongated cerebrospinal fluid density temporal regions, determining an impression brain parenchyma, indeterminate aspect, may correspond arachnoid cyst. An MRI result absence septum pellucidum, schizencephaly, lissencephaly, adenohypophysis reduced dimensions, markedly tapered pituitary stalk - being possible exclude discontinuity hypoplastic optic chiasm. Ophthalmological evaluation direct indirect photomotor reflex increased bilateral nerve excavation. In view findings, diagnosis septo-optic dysplasia (SOD) plus considered. Currently, child is outpatient follow-up pediatric service.