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Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome.

Journal article
Authors Saskia B Wortmann
Peter M van Hasselt
Ivo Barić
Alberto Burlina
Niklas Darin
Friederike Hörster
Mahmut Coker
Sema Kalkan Ucar
Zita Krumina
Karin Naess
Lock H Ngu
Ewa Pronicka
Gilian Riordan
Rene Santer
Evangeline Wassmer
Johannes Zschocke
Manuel Schiff
Linda De Meirleir
Mohammed A Alowain
Jan A M Smeitink
Eva Morava
Tamas Kozicz
Ron A Wevers
Nicole I Wolf
Michel A Willemsen
Published in Neuropediatrics
Volume 46
Issue 2
Pages 098-103
ISSN 1439-1899
Publication year 2015
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 098-103
Language en
Links dx.doi.org/10.1055/s-0034-1399755
Subject categories Neurology, Pediatrics

Abstract

Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739) is a clinically and biochemically highly distinctive dystonia deafness syndrome accompanied by 3-methylglutaconic aciduria, severe developmental delay, and progressive spasticity. Mutations are found in SERAC1, encoding a phosphatidylglycerol remodeling enzyme essential for both mitochondrial function and intracellular cholesterol trafficking. Based on the homogenous phenotype, we hypothesized an accordingly characteristic MRI pattern. A total of 43 complete MRI studies of 30 patients were systematically reevaluated. All patients presented a distinctive brain MRI pattern with five characteristic disease stages affecting the basal ganglia, especially the putamen. In stage 1, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an "eye" that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. This "eye" was found in all patients with MEGDEL syndrome during a specific age range, and has not been reported in other disorders, making it pathognomonic for MEDGEL and allowing diagnosis based on MRI findings.

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