title: Septo-optic dysplasia.
abstract: 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 referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. In 4 of the patients, we identified neuroimaging abnormalities of the hypothalamo-pituitary axis such as anterior pituitary hypoplasia (3/5), ectopic posterior pituitary (4/5), thin or absent stalk (3/5) and empty sella (1/5). We also encountered diverse pituitary deficiencies: growth hormone (3/5), adrenocorticotropic hormone (3/5), thyroid-stimulating hormone (2/5) and antidiuretic hormone (1/5). Only one child presented intact pituitary function and anatomy. Although rare, SOD is an important cause of congenital hypopituitarism and it should be considered in children with optic nerve hypoplasia or midline brain abnormalities for early diagnosis and treatment.
authors.affiliation: Institute of Puericultura and Pediatrics Martagão Gesteira (IPPMG) and University Hospital Clementino Fraga Filho (HUCFF) of the Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro RJ, Brazil.
authors.forename: Karina de
authors.initials: Kd
authors.lastname: Ferran
authors.forename: Isla Aguiar
authors.initials: IA
authors.lastname: Paiva
authors.forename: Daniel Luiz Schueftan
authors.initials: DL
authors.lastname: Gilban
authors.forename: Monique
authors.initials: M
authors.lastname: Resende
authors.forename: Micheline Abreu Rayol de
authors.initials: MA
authors.lastname: Souza
authors.forename: Izabel Calland Ricarte
authors.initials: IC
authors.lastname: Beserra
authors.forename: Marilia Martins
authors.initials: MM
authors.lastname: Guimarães
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis* / Q000209:etiology; D007030:Hypothalamo-Hypophyseal System / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D012658:Sella Turcica / Q000002:abnormalities*; D025962:Septo-Optic Dysplasia / Q000150:complications / Q000175:diagnosis*