Literature DB >> 7969796

The radiological features of hemimegalencephaly including three cases associated with proteus syndrome.

P D Griffiths1, R J Welch, D Gardner-Medwin, A Gholkar, V McAllister.   

Abstract

We report the radiological appearances of 5 children with hemimegalencephaly. There are few reports of this rare condition in the radiological literature. Two of the children have hemimegalencephaly as an isolated finding while the other three have Proteus syndrome. Four children have seizures which commenced within the first 6 months of life and two of these subsequently required hemispherectomy. In addition to the typical radiological features of hemimegalencephaly there was a high incidence of other brain anomalies. These include hypoplasia of the corpus callosum and crus cerebri, grey and white matter calcification and cortical migration/organisational disorders.

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Year:  1994        PMID: 7969796     DOI: 10.1055/s-2008-1073012

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  11 in total

1.  De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Authors:  Jeong Ho Lee; My Huynh; Jennifer L Silhavy; Sangwoo Kim; Tracy Dixon-Salazar; Andrew Heiberg; Eric Scott; Vineet Bafna; Kiley J Hill; Adrienne Collazo; Vincent Funari; Carsten Russ; Stacey B Gabriel; Gary W Mathern; Joseph G Gleeson
Journal:  Nat Genet       Date:  2012-06-24       Impact factor: 38.330

Review 2.  Hemimegalencephaly: clinical implications and surgical treatment.

Authors:  C Di Rocco; D Battaglia; D Pietrini; M Piastra; L Massimi
Journal:  Childs Nerv Syst       Date:  2006-07-05       Impact factor: 1.475

Review 3.  Diffusion tensor imaging and fiber tractography in brain malformations.

Authors:  Andrea Poretti; Avner Meoded; Andrea Rossi; Charles Raybaud; Thierry A G M Huisman
Journal:  Pediatr Radiol       Date:  2013-01-04

Review 4.  Anesthesiological and intensive care considerations in children undergoing extensive cerebral excision procedure for congenital epileptogenic lesions.

Authors:  D Pietrini; F Zanghi; A Pusateri; F Tosi; S Pulitanò; M Piastra
Journal:  Childs Nerv Syst       Date:  2006-06-29       Impact factor: 1.475

5.  Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Princess Christina Elhosary; Rameen Beroukhim; Maria K Lehtinen; L Benjamin Hills; Erin L Heinzen; Anthony Hill; R Sean Hill; Brenda J Barry; Blaise F D Bourgeois; James J Riviello; A James Barkovich; Peter M Black; Keith L Ligon; Christopher A Walsh
Journal:  Neuron       Date:  2012-04-12       Impact factor: 17.173

Review 6.  Somatic mutation, genomic variation, and neurological disease.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Christopher A Walsh
Journal:  Science       Date:  2013-07-05       Impact factor: 47.728

7.  Hemispherectomy procedures in children: haematological issues.

Authors:  M Piastra; D Pietrini; E Caresta; A Chiaretti; L Viola; F Cota; A Pusateri; G Polidori; C Di Rocco
Journal:  Childs Nerv Syst       Date:  2004-07       Impact factor: 1.475

8.  Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder.

Authors:  Zoran S Gucev; Velibor Tasic; Aleksandra Jancevska; Marina Krstevska Konstantinova; Nada Pop-Jordanova; Zoran Trajkovski; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2008-10-15       Impact factor: 2.802

Review 9.  A developmental and genetic classification for midbrain-hindbrain malformations.

Authors:  A James Barkovich; Kathleen J Millen; William B Dobyns
Journal:  Brain       Date:  2009-12       Impact factor: 13.501

Review 10.  Genetic changes shaping the human brain.

Authors:  Byoung-Il Bae; Divya Jayaraman; Christopher A Walsh
Journal:  Dev Cell       Date:  2015-02-23       Impact factor: 12.270

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