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

Discussion: SOD is a rare developmental malformation that includes hypoplasia/dysplasia of the optic nerve, hypothalamic-hypophyseal dysfunction, and midline abnormalities. The term SOD-plus was suggested to differentiate SOD with associated malformations of cortical development.

Final comments: SOD-plus is a differential diagnosis to be considered in the face of cortical malformations associated with endocrine and ophthalmological alterations.

 

Scroll to top

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023