Septo-optic dysplasia (SOD), previously termed De Morsiers syndrome, is a rare developmental disorder of midline brain structures characterized by optic nerve hypoplasia (ONH), midline neuroradiological abnormalities, and pituitaryhypothalamic dysfunction such as GH deficiency. The phenotype is highly variable and the clinical presentation may be mild or extremely severe. It is an infrequent disease and its causation is most presumably multifactorial, involving environmental factors as well as several recognized crucial developmental genes (HESX1, SOX2, SOX3). A case of 35-year-old male with diagnosed SOD in early childhood and manifestation of fully developed disease is presented. Diagnosis is made on the basis of pituitary hypoplasia with panhypopituitarism as well as bilateral ONH resulting in significant visual impairment and nystagmus. No other midline brain abnormality was found. The course of disease was complicated by short stature, developmental delay, sensorineural hearing loss, osteoporosis, psychiatric co-morbidity (anxiety-depression disorder with elements of obsessive-compulsive behavior) with sleeping disorder, and finally obesity. In spite of regular follow-up and hormone substitution, aforementioned associated features were unpreventable. SOD remains a rare, phenotypically variable disorder, which can pose significant diagnostic and management challenges.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology