Septo-optic dysplasia

摘要: Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally be evaluated due short stature, who presented bilateral hypoplasia, nystagmus development delay. In 4 patients, we identified neuroimaging abnormalities hypothalamo-pituitary axis such anterior (3/5), ectopic posterior (4/5), thin or absent stalk (3/5) empty sella (1/5). encountered diverse deficiencies: growth hormone adrenocorticotropic thyroid-stimulating (2/5) antidiuretic Only one child intact function anatomy. Although rare, SOD an important cause hypopituitarism it should considered in for early diagnosis treatment.