Septo-optic dysplasia.
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.
Ferran
Karina de
Kd
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.
Paiva
Isla Aguiar
IA
Gilban
Daniel Luiz Schueftan
DL
Resende
Monique
M
Souza
Micheline Abreu Rayol de
MA
Beserra
Izabel Calland Ricarte
IC
Guimarães
Marilia Martins
MM
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*