Septo-optic dysplasia
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de neuro-psiquiatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000300014 |
Resumo: | 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. |
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Septo-optic dysplasiasepto-optic dysplasiaoptic nerve/abnormalitieshypopituitarismSepto-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.Academia Brasileira de Neurologia - ABNEURO2010-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000300014Arquivos de Neuro-Psiquiatria v.68 n.3 2010reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2010000300014info:eu-repo/semantics/openAccessFerran,Karina dePaiva,Isla AguiarGilban,Daniel Luiz SchueftanResende,MoniqueSouza,Micheline Abreu Rayol deBeserra,Izabel Calland RicarteGuimarães,Marilia Martinseng2010-06-24T00:00:00Zoai:scielo:S0004-282X2010000300014Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2010-06-24T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Septo-optic dysplasia |
title |
Septo-optic dysplasia |
spellingShingle |
Septo-optic dysplasia Ferran,Karina de septo-optic dysplasia optic nerve/abnormalities hypopituitarism |
title_short |
Septo-optic dysplasia |
title_full |
Septo-optic dysplasia |
title_fullStr |
Septo-optic dysplasia |
title_full_unstemmed |
Septo-optic dysplasia |
title_sort |
Septo-optic dysplasia |
author |
Ferran,Karina de |
author_facet |
Ferran,Karina de Paiva,Isla Aguiar Gilban,Daniel Luiz Schueftan Resende,Monique Souza,Micheline Abreu Rayol de Beserra,Izabel Calland Ricarte Guimarães,Marilia Martins |
author_role |
author |
author2 |
Paiva,Isla Aguiar Gilban,Daniel Luiz Schueftan Resende,Monique Souza,Micheline Abreu Rayol de Beserra,Izabel Calland Ricarte Guimarães,Marilia Martins |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Ferran,Karina de Paiva,Isla Aguiar Gilban,Daniel Luiz Schueftan Resende,Monique Souza,Micheline Abreu Rayol de Beserra,Izabel Calland Ricarte Guimarães,Marilia Martins |
dc.subject.por.fl_str_mv |
septo-optic dysplasia optic nerve/abnormalities hypopituitarism |
topic |
septo-optic dysplasia optic nerve/abnormalities hypopituitarism |
description |
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. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000300014 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000300014 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-282X2010000300014 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
dc.source.none.fl_str_mv |
Arquivos de Neuro-Psiquiatria v.68 n.3 2010 reponame:Arquivos de neuro-psiquiatria (Online) instname:Academia Brasileira de Neurologia instacron:ABNEURO |
instname_str |
Academia Brasileira de Neurologia |
instacron_str |
ABNEURO |
institution |
ABNEURO |
reponame_str |
Arquivos de neuro-psiquiatria (Online) |
collection |
Arquivos de neuro-psiquiatria (Online) |
repository.name.fl_str_mv |
Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia |
repository.mail.fl_str_mv |
||revista.arquivos@abneuro.org |
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1754212768804765696 |