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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, Vol. 46, No. 2, 04.2015, p. 98-103.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Wortmann, SB, van Hasselt, PM, Barić, I, Burlina, A, Darin, N, Hörster, F, Coker, M, Ucar, SK, Krumina, Z, Naess, K, Ngu, LH, Pronicka, E, Riordan, G, Santer, R, Wassmer, E, Zschocke, J, Schiff, M, de Meirleir, L, Alowain, MA, Smeitink, JAM, Morava, E, Kozicz, T, Wevers, RA, Wolf, NI & Willemsen, MA 2015, 'Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome', NEUROPEDIATRICS, vol. 46, no. 2, pp. 98-103. https://doi.org/10.1055/s-0034-1399755

APA

Wortmann, S. B., van Hasselt, P. M., Barić, I., Burlina, A., Darin, N., Hörster, F., Coker, M., Ucar, S. K., Krumina, Z., Naess, K., Ngu, L. H., Pronicka, E., Riordan, G., Santer, R., Wassmer, E., Zschocke, J., Schiff, M., de Meirleir, L., Alowain, M. A., ... Willemsen, M. A. (2015). Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. NEUROPEDIATRICS, 46(2), 98-103. https://doi.org/10.1055/s-0034-1399755

Vancouver

Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F et al. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. NEUROPEDIATRICS. 2015 Apr;46(2):98-103. https://doi.org/10.1055/s-0034-1399755

Bibtex

@article{d6c0559fcb6947dd88aaa7cc0a1a44fe,
title = "Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome",
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.",
keywords = "Basal Ganglia, Child, Preschool, Deafness, Disease Progression, Dystonic Disorders, Humans, Infant, Magnetic Resonance Imaging, Mitochondrial Diseases, Putamen, Syndrome",
author = "Wortmann, {Saskia B} and {van Hasselt}, {Peter M} and Ivo Bari{\'c} and Alberto Burlina and Niklas Darin and Friederike H{\"o}rster and Mahmut Coker and Ucar, {Sema Kalkan} and Zita Krumina and Karin Naess and Ngu, {Lock H} and Ewa Pronicka and Gilian Riordan and Rene Santer and Evangeline Wassmer and Johannes Zschocke and Manuel Schiff and {de Meirleir}, Linda and Alowain, {Mohammed A} and Smeitink, {Jan A M} and Eva Morava and Tamas Kozicz and Wevers, {Ron A} and Wolf, {Nicole I} and Willemsen, {Michel A}",
note = "Georg Thieme Verlag KG Stuttgart · New York.",
year = "2015",
month = apr,
doi = "10.1055/s-0034-1399755",
language = "English",
volume = "46",
pages = "98--103",
journal = "NEUROPEDIATRICS",
issn = "0174-304X",
publisher = "Hippokrates Verlag GmbH",
number = "2",

}

RIS

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 -