Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome
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Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. / Wortmann, Saskia B; van Hasselt, Peter M; Barić, Ivo; Burlina, Alberto; Darin, Niklas; Hörster, Friederike; Coker, Mahmut; Ucar, Sema Kalkan; Krumina, Zita; Naess, Karin; Ngu, Lock H; Pronicka, Ewa; Riordan, Gilian; Santer, Rene; Wassmer, Evangeline; Zschocke, Johannes; Schiff, Manuel; de Meirleir, Linda; Alowain, Mohammed A; Smeitink, Jan A M; Morava, Eva; Kozicz, Tamas; Wevers, Ron A; Wolf, Nicole I; Willemsen, Michel A.
in: NEUROPEDIATRICS, Jahrgang 46, Nr. 2, 04.2015, S. 98-103.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome
AU - Wortmann, Saskia B
AU - van Hasselt, Peter M
AU - Barić, Ivo
AU - Burlina, Alberto
AU - Darin, Niklas
AU - Hörster, Friederike
AU - Coker, Mahmut
AU - Ucar, Sema Kalkan
AU - Krumina, Zita
AU - Naess, Karin
AU - Ngu, Lock H
AU - Pronicka, Ewa
AU - Riordan, Gilian
AU - Santer, Rene
AU - Wassmer, Evangeline
AU - Zschocke, Johannes
AU - Schiff, Manuel
AU - de Meirleir, Linda
AU - Alowain, Mohammed A
AU - Smeitink, Jan A M
AU - Morava, Eva
AU - Kozicz, Tamas
AU - Wevers, Ron A
AU - Wolf, Nicole I
AU - Willemsen, Michel A
N1 - Georg Thieme Verlag KG Stuttgart · New York.
PY - 2015/4
Y1 - 2015/4
N2 - 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.
AB - 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.
KW - Basal Ganglia
KW - Child, Preschool
KW - Deafness
KW - Disease Progression
KW - Dystonic Disorders
KW - Humans
KW - Infant
KW - Magnetic Resonance Imaging
KW - Mitochondrial Diseases
KW - Putamen
KW - Syndrome
U2 - 10.1055/s-0034-1399755
DO - 10.1055/s-0034-1399755
M3 - SCORING: Journal article
C2 - 25642805
VL - 46
SP - 98
EP - 103
JO - NEUROPEDIATRICS
JF - NEUROPEDIATRICS
SN - 0174-304X
IS - 2
ER -