Background: Septo-optic dysplasia (SOD) is a congenital affection characterized by classic triade: optic nerve hypoplasia, hypothalamic-pituitary endocrine deficits and mdline abnormalities of the brain. It is typically diagnosed in infancy and has a variable presentation.
Case presentation: The patient is an 5 year old Algerian girl. At birth, bilateral congenital nystagmus and strabism was noted? Right blindness was suspected by parents at age of 2 years but confirmed only at 4 years old. Ophtalmological evaluation and brain magnetic resonance imaging demonstrate hypoplasia of the optic nerves, chiasma and optic tracts mainly on the right with small pituitary gland. At 5 years 10 months she was referred to our hospital because of short stature. Endocrinological evaluation showed somatotroph, corticotroph and thyrotroph deficiencies. She was treated with hydrocortisone, L-thyroxine and GH.
Conclusion: SOD remains a rare, heterogeneous and phenotypically variable disorder. He still represents a diagnostic challenge. Ophtalmologist and neurologists should be aware to the identification of any of the features of the syndrome.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology