Literature DB >> 7760184

Bilateral arachnoid cysts of the sylvian region in female siblings with glutaric aciduria type I. Report of two cases.

Z A Jamjoom1, E Okamoto, A H Jamjoom, O al-Hajery, A Abu-Melha.   

Abstract

Two sisters, aged 6 and 2 1/2 years, presented with macrocephaly and delayed motor development and were found on computerized tomography to have bilateral arachnoid cysts of the sylvian region. Cystoperitoneal shunting of the larger cysts resulted in considerable neurological improvement in both children. Subsequent screening of the patients' urine for organic acids showed that the two sisters were suffering from glutaric aciduria type I (GA-I). To the best of the authors' knowledge, this is the first report to provide clear radiological and surgical evidence of the association between GA-I and bilateral arachnoid cysts of the sylvian region. The role of the shunting procedure used in these cases is discussed.

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Year:  1995        PMID： 7760184     DOI： 10.3171/jns.1995.82.6.1078

Source DB:  PubMed          Journal:  J Neurosurg        ISSN： 0022-3085            Impact factor:   5.115


  4 in total

1.  Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Authors:  S Kölker; E Christensen; J V Leonard; C R Greenberg; A B Burlina; A P Burlina; M Dixon; M Duran; S I Goodman; D M Koeller; E Müller; E R Naughten; E Neumaier-Probst; J G Okun; M Kyllerman; R A Surtees; B Wilcken; G F Hoffmann; P Burgard
Journal:  J Inherit Metab Dis       Date:  2007-01-03       Impact factor: 4.982

Review 2.  Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Authors:  Nikolas Boy; Chris Mühlhausen; Esther M Maier; Jana Heringer; Birgit Assmann; Peter Burgard; Marjorie Dixon; Sandra Fleissner; Cheryl R Greenberg; Inga Harting; Georg F Hoffmann; Daniela Karall; David M Koeller; Michael B Krawinkel; Jürgen G Okun; Thomas Opladen; Roland Posset; Katja Sahm; Johannes Zschocke; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

3.  Familial posterior fossa arachnoid cyst.

Authors:  Saurabh Sinha; Jennifer I M Brown
Journal:  Childs Nerv Syst       Date:  2003-10-11       Impact factor: 1.475

Review 4.  Diagnosis and management of glutaric aciduria type I--revised recommendations.

Authors:  Stefan Kölker; Ernst Christensen; James V Leonard; Cheryl R Greenberg; Avihu Boneh; Alberto B Burlina; Alessandro P Burlina; Marjorie Dixon; Marinus Duran; Angels García Cazorla; Stephen I Goodman; David M Koeller; Mårten Kyllerman; Chris Mühlhausen; Edith Müller; Jürgen G Okun; Bridget Wilcken; Georg F Hoffmann; Peter Burgard
Journal:  J Inherit Metab Dis       Date:  2011-03-23       Impact factor: 4.982
  4 in total

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