Literature DB >> 19107491

Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome.

Laura Columbano1, Wolf Luedemann, Yasuko Kusaka, Shizuo Oi, Madjid Samii.   

Abstract

Aicardi syndrome is an X-linked dominant disorder characterized by the pathognonomic association of three clinical signs: agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. This is a severe syndrome with an estimated survival rate of 76% at 6 years and 40% at 14 years and a maximum developmental level like a 12-month-old baby in 91% of cases. We illustrate a case of Aicardi syndrome with bilateral, small chorioretinal lacunae, infantile spasms with a typical hypsarrhythmia, defects of thoracic vertebra and bilateral absence of the 12th rib associated with an arachnoid cyst of the quadrigeminal cistern, and presence of the corpus callosum with a favorable outcome.

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Year:  2008        PMID: 19107491     DOI: 10.1007/s00381-008-0772-8

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


  7 in total

1.  Malformative intracranial cysts: diagnosis and outcome.

Authors:  Alain Pierre-Kahn; Pascale Sonigo
Journal:  Childs Nerv Syst       Date:  2003-07-19       Impact factor: 1.475

2.  Facial and physical features of Aicardi syndrome: infants to teenagers.

Authors:  V Reid Sutton; Bobbi J Hopkins; Tanya N Eble; Nikki Gambhir; Richard A Lewis; Ignatia B Van den Veyver
Journal:  Am J Med Genet A       Date:  2005-10-15       Impact factor: 2.802

3.  Aicardi syndrome--the elusive mild case.

Authors:  A V Menezes; R W Enzenauer; J R Buncic
Journal:  Br J Ophthalmol       Date:  1994-06       Impact factor: 4.638

4.  Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?

Authors:  Jose Maria Prats Viñas; María Jesús Martinez Gonzalez; Ainhoa Garcia Ribes; Sonia Martinez Gonzalez; Ricardo Martinez Fernandez
Journal:  Dev Med Child Neurol       Date:  2005-06       Impact factor: 5.449

Review 5.  Aicardi syndrome.

Authors:  Jean Aicardi
Journal:  Brain Dev       Date:  2005-04       Impact factor: 1.961

Review 6.  [Focus on Dandy-Walker malformation].

Authors:  O Klein; A Pierre-Kahn
Journal:  Neurochirurgie       Date:  2006-09       Impact factor: 1.553

Review 7.  Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females.

Authors:  Tena L Rosser; Maria T Acosta; Roger J Packer
Journal:  Pediatr Neurol       Date:  2002-11       Impact factor: 3.372

  7 in total
  4 in total

1.  Foetal Magnetic Resonance Images of Two Cases of Aicardi Syndrome.

Authors:  Sebastián Gacio; Sebastián Lescano
Journal:  J Clin Diagn Res       Date:  2017-07-01

2.  Neuroendoscopic approach to quadrigeminal cistern arachnoid cysts.

Authors:  Goksin Sengul; Yusuf Tuzun; Murteza Cakir; Sencer Duman; Abdullah Colak; Hakan Hadi Kadioglu; Ismail Hakki Aydin
Journal:  Eurasian J Med       Date:  2012-04

3.  Prenatal diagnosis of arachnoid cysts: a case series and systematic review.

Authors:  Charles Beresford; Samuel Hall; Alexander Smedley; Nijaguna Mathad; Ryan Waters; Aabir Chakraborty; Owen C Sparrow; Vassilios Tsitouras
Journal:  Childs Nerv Syst       Date:  2020-01-02       Impact factor: 1.475

4.  Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.

Authors:  Léo Pomar; José Ochoa; Sara Cabet; Thierry A G M Huisman; Dario Paladini; Philipp Klaritsch; Aurore Galmiche; Florian Prayer; Sebastián Gacio; Karina Haratz; Gustavo Malinger; Tim Van Mieghem; David Baud; Bryann Bromley; Sébastien Lebon; Estelle Dubruc; Yvan Vial; Laurent Guibaud
Journal:  Prenat Diagn       Date:  2022-01-10       Impact factor: 3.242

  4 in total

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