File:Pontocerebellar hypoplasia MRI 1750-1172-7-18-4-l.jpg

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Description MRI examples of patients with pontocerebellar hypoplasia. A. Sagittal images showing spectrum of vermis and pons hypoplasia. Number represents the number of the patient. Figure 9 shows MRI of patient 9 at age 4 months and figure 9b patient 9 at age 11 years. Note that in all patients, the pons is very small but has a relative sparing of his buldging, mainly in its superior part. Hypoplasia predominates at the inferior part of the pons. Vermis hypoplasia is very variable, severe in patient 13, very slight in patient 10-11-12 and predominates at the inferior part. V4 is open in most cases. B. Coronal images showing spectrum of cerebellar hemispheric hypoplasia. Number represents the number of the patient. Hemispheres are frequently asymmetric. Note that the vermis does not protrude from the hemispheres indicating similar involvement of the vermis and the hemispheres. This pattern is different from that of PCH2 in which the vermis is relatively spared leading to the classic image of "dragonfly", the protruding vermis being the body of the dragonfly and the hemispheres, the wings. There is no progression of the lesions between successive MRI in patient 9.
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Source http://www.ojrd.com/content/7/1/18
Author Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh5, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur and Diana Rodriguez. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet Journal of Rare Diseases 2012, 7:18 doi:10.1186/1750-1172-7-18
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27 March 2012

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current15:40, 17 May 2012Thumbnail for version as of 15:40, 17 May 20121,200 × 1,698 (347 KB)commons>Stevenfruitsmaak{{Information |Description=MRI examples of patients with pontocerebellar hypoplasia. A. Sagittal images showing spectrum of vermis and pons hypoplasia. Number represents the number of the patient. Figure 9 shows MRI of patient 9 at age 4 months and fig...

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