We describe a case of Septo-Optic Dysplasia (SOD) characterized by the presence of anomalous cerebral vessels. In our young patient the classical features of SOD were associated with vascular anomalies including absence of the vein of Galen, right Rosenthal vein leading to the superior petrosal sinus, and anomalous origin of the anterior choroidal arteries. These findings have never been associated with SOD in the literature but their revelation supports the hypothesis of a vascular disruption as a possible cause of the SOD.
BarkovichAJ. Congenital malformation of the brain and skull. In: BarkovichAJ ed. Pediatric neuroimaging, 4th ed.Philadelphia: Lippincott Williams & Wilkins; 2005. p 291–439.
2.
MorishimaAAranoffGS. Syndrome of septo-optic pituitary dysplasia: the clinical spectrum. Brain Dev.1986; 8: 233–239.
3.
BirkebaekNHPatelLWrightNB. Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging. J Clin Endocrinol Metab. 2003; 88 (11): 5281–5286.
4.
FushimiYMikiYUebaT. Liliequist membrane: Three-dimensional constructive interference in steady state MR imaging. Radiology. 2003; 229: 360–365.
5.
RhotonALJr. The supratentorial arteries. Neurosurgery. 2002; 51: 53–120.
6.
PatelLMcNallyRJHarrisonE. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006; 148 (1): 85–88.
7.
LubinskyMS. Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet. 1997; 69: 235–236.
8.
McCabeMJAlatzoglouKSDattaniMT. Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Pract Res Clin Endocrinol Metab. 2011; 25: 115–124.
9.
Tortori-DonatiPRossiABiancheriR. Brain malformation. In: Tortori-DonatiP ed. Pediatric Neuroimaging: Brain, skull and meninges. Berlin: Springer-Verlag; 2005. p. 95–97.
