Septo-optic dysplasia

Arquivos de Neuro-Psiquiatria

Karina De Ferran²  Isla Aguiar Paiva²  Daniel Luiz Schueftan Gilban¹  Monique Resende¹  Micheline Abreu Rayol De Souza¹  Izabel Calland Ricarte Beserra¹  Marilia Martins Guimarães¹ 

[1] ,UFRJ Master Program

关键词: septo-optic dysplasia;    optic nerve;    hypopituitarism;    displasia septo-óptica;    nervo óptico;    hipopituitarismo;   

DOI  :  10.1590/S0004-282X2010000300014

来源: SciELO

【 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 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.

【 授权许可】

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