Septo-optic dysplasia.
Arq Neuropsiquiatr
; 68(3): 400-5, 2010 Jun.
Article
em En
| MEDLINE
| ID: mdl-20602044
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sela Túrcica
/
Displasia Septo-Óptica
/
Hipopituitarismo
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Sistema Hipotálamo-Hipofisário
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Adolescent
/
Child
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Child, preschool
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Female
/
Humans
/
Male
Idioma:
En
Revista:
Arq Neuropsiquiatr
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Alemanha