IMPE Abstracts

Septo‐optic dysplasia (SOD) or Morsier's syndrome is a congenital developmental anomaly of the brain that could present absent of septum pellucidum and corpus callosum, optic nerve hypoplasia and pituitary hypoplasia. Gene variants of the transcription factors HESX1 SOX3, SOX2, and OTX2 had been described in SOD. The two latter are also causatives genes of anophthalmia. Craniopharyngioma (CP) is a tumor with low histological grade, the association to unilateral anophthalmia was reported in one patient. Association with SOD had not been reported.

Objective: To report a patient with anophthalmia and SOD that developed CP.

Results: An 11-year-old boy born at term after normal pregnancy and delivery with adequate weight and length had bilateral anophthalmia, and severe global neurodevelopmental delay. The cerebral MRI revealed hypoplasia of optic nerve, complete agenesis of chiasm and slim corpus callosum that lead to diagnosis of SOD, Karyotyping revealed translocation 46,XY, t(11;18) (q21.1;q23.3) inherited from his healthy mother. At six years old MRI showed a hypointense lesion on T2 of 13x6 mm that enhance with contrast at suprasellar level. He was lost of found, and at 11 years old consulted in our hospital. Physical examination revealed height -2.8 DS weight -2.4 DS normal prepubertal genitalia, anophthalmia without others distinctive features. MRI showed the suprasellar mass with mixed cystic and solid composition of 30x34.3 mm with sparce lesions suggestive of calcifications. Laboratory showed normal cortisol, ACTH, prolactin and thyroid hormones. IGF1: 60.8 ng/ml (95-315) GH 0.07ng/ml (0-5). Remotion of the tumor was performed under treatment with hydrocortisone. After surgery persisting elevated urine output of 11.5 ml /kg/hour, Na 157 mEq /l (135-145) urine density of 1000 in the presence of normal renal function with good respond to DDAVP lead to diagnosis of central diabetes insipidus. . In the following days laboratory showed TSH: 2mUI/ml (0.5-5.7), T4: 3.99 mg/dl (6.3-14.2), T3: 42.0 ng/dl (77-135), Free T4 : 0.51 ng/dl (0.93-1.7). With diagnosis of central hypothyroidism started levothyroxine treatment. Histologic studies revealed adamantinomatous craniopharyngioma grade 1. A recombination during meiosis could had originated DNA changes transmitted to the child that potentially could be implicated in his disease The association of anophthalmia and SOD suggest that SOX2 or OTX2 which are genes causatives of both pathologies should be studied in the future

Conclusion: We report the association of CP with SOD an anophthalmia that had not been previously reported.