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Neurology Publish Ahead of PrintDOI: 10.1212/WNL.0000000000010367
Symmetrical abnormalities of the globi pallidi in Succinic Semialdehyde Dehydrogenase Deficiency
Silvia Esposito, MD, PhD1, Marco Moscatelli, MD2, Claudio Caccia, PhD4, Elisa Granocchio, MD1, Chiara
Pantaleoni, MD1, Anna Ardissone , MD5 , Cinzia Gellera, PhD 4, Laura Farina, MD2, 3
1 Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11,
20131 Milan, Italy
2 Neuroradiology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20131
Milan, Italy
3Neuroimaging Laboratory, IRCCS Fondazione Santa Lucia, Via Ardeatina, 306/354, 00142 Rome, Italy
4Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via
Celoria 11, 20131 Milan, Italy
5Unit of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20131
Milan, Italy
Corresponding author:
Silvia Esposito ([email protected] )
Neurology® Published Ahead of Print articles have been peer reviewed and accepted for
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Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited
Published Ahead of Print on July 17, 2020 as 10.1212/WNL.0000000000010367
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Title character count: 96 (including spaces and punctuation)
Word count of paper: 100
Number of Figures: 1
Word Count of Legend: 49
Key Words: Succinic semialdehyde dehydrogenase deficiency – SSADHD, metabolic disorder, MRI, Globi
Pallidi, GABA
Study funding: No targeted funding reported.
Disclosure: The authors report no disclosures relevant to the manuscript.
A 4‐year‐old boy born full term after an uneventful pregnancy and with normal early developmental
milestones achievement, presented hypotonia, motor coordination disorder, childhood apraxia of speech.
Brain MRI revealed globi pallidi T2 symmetrical signal abnormalities (Figure 1). An extensive diagnostic
workup panel was performed to excluded metabolic and acquired conditions.1,2 Urine organic acid profile
showed marked γ-hydroxybutyrate aciduria (222 µg/mg creatinine, n.v.<5). Genetic analysis revealed two
compound heterozygous pathogenic mutations in ALDH5A1 gene (p.Pro81Ser, maternal origin;
p.Arg527Ter, paternal origin) consistent with SSADHD suspicion. This rare entity must be suspected in
case of T2-weighted MRI symmetrical abnormalities of the globi pallidi.1,2
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Appendix 1: Authors
Name Location Contribution
Silvia Esposito, MD, PhD
Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
study design and manuscript writing, cared for the patient
Marco Moscatelli, MD
Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
interpretation of radiological images, and manuscript revision for intellectual content
Claudio Caccia, PhD
Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
manuscript revision for intellectual content and interpretation of metabolic and genetic findings
Elisa Granocchio, MD Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
manuscript revision for intellectual content and interpretation of neuropsychological assessment
Chiara Pantaleoni, MD Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
manuscript revision for intellectual content
Anna Ardissone, MD Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
manuscript revision for intellectual content, cared for the patient
Cinzia Gellera, PhD Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
manuscript revision for intellectual content and interpretation of metabolic and genetic findings
Laura Farina, MD Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Fondazione IRCCS Fondazione Santa Lucia, Rome, Italy
interpretation of radiological images and manuscript revision for intellectual content
Teaching Slides-http://links.lww.com/WNL/B174
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References
1: Barkovich AJ. An approach to MRI of metabolic disorders in children. J Neuroradiol. 2007 May;34(2):75-
88. Review. PubMed PMID: 17459477.
2: Zuccoli G, Yannes MP, Nardone R, Bailey A, Goldstein A. Bilateral symmetrical basal ganglia and
thalamic lesions in children: an update (2015). Neuroradiology. 2015 Oct;57(10):973-89. doi:
10.1007/s00234-015-1568-7. PubMed PMID: 26227169.
Figure Title
Globi Pallidi T2 symmetrical hyperintensity
Figure Legend
Figure1: Axial (A) and coronal T2-wi (B-C) show symmetrical hyperintensity of the globi pallidi (arrows).
Note that both pallidal components (internal and external pallidus) are well discernible. No dentate
involvement nor cerebellar atrophy is seen. D) DWI images show pallidal diffusion restriction at high b-
values confirmed by ADC map (E).
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DOI 10.1212/WNL.0000000000010367 published online July 17, 2020Neurology
Silvia Esposito, Marco Moscatelli, Claudio Caccia, et al. Semialdehyde Dehydrogenase Deficiency
Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in Succinic
This information is current as of July 17, 2020
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