Top Banner
Neurology Publish Ahead of Print DOI: 10.1212/WNL.0000000000010367 Symmetrical abnormalities of the globi pallidi in Succinic Semialdehyde Dehydrogenase Deficiency Silvia Esposito, MD, PhD 1 , Marco Moscatelli, MD 2 , Claudio Caccia, PhD 4 , Elisa Granocchio, MD 1 , Chiara Pantaleoni, MD 1 , Anna Ardissone , MD 5 , Cinzia Gellera, PhD 4 , Laura Farina, MD 2, 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 3 Neuroimaging Laboratory, IRCCS Fondazione Santa Lucia, Via Ardeatina, 306/354, 00142 Rome, Italy 4 Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20131 Milan, Italy 5 Unit 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 publication. This manuscript will be published in its final form after copyediting, page composition, and review of proofs. Errors that could affect the content may be corrected during these processes. ACCEPTED 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
5

DOI: 10.1212/WNL.0000000000010367 Neurology Publish Ahead … · 2020-07-17 · Pantaleoni, MD1, Anna Ardissone , MD5, Cinzia Gellera, PhD 4, Laura Farina, MD2, 3 1 Developmental

Jul 24, 2020

Download

Documents

dariahiddleston
Welcome message from author
This document is posted to help you gain knowledge. Please leave a comment to let me know what you think about it! Share it to your friends and learn new things together.
Transcript
Page 1: DOI: 10.1212/WNL.0000000000010367 Neurology Publish Ahead … · 2020-07-17 · Pantaleoni, MD1, Anna Ardissone , MD5, Cinzia Gellera, PhD 4, Laura Farina, MD2, 3 1 Developmental

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

publication. This manuscript will be published in its final form after copyediting, page composition,

and review of proofs. Errors that could affect the content may be corrected during these processes.

ACCEPTED

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

Page 2: DOI: 10.1212/WNL.0000000000010367 Neurology Publish Ahead … · 2020-07-17 · Pantaleoni, MD1, Anna Ardissone , MD5, Cinzia Gellera, PhD 4, Laura Farina, MD2, 3 1 Developmental

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

ACCEPTED

Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited

Page 3: DOI: 10.1212/WNL.0000000000010367 Neurology Publish Ahead … · 2020-07-17 · Pantaleoni, MD1, Anna Ardissone , MD5, Cinzia Gellera, PhD 4, Laura Farina, MD2, 3 1 Developmental

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

ACCEPTED

Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited

Page 4: DOI: 10.1212/WNL.0000000000010367 Neurology Publish Ahead … · 2020-07-17 · Pantaleoni, MD1, Anna Ardissone , MD5, Cinzia Gellera, PhD 4, Laura Farina, MD2, 3 1 Developmental

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).

ACCEPTED

Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited

Page 5: DOI: 10.1212/WNL.0000000000010367 Neurology Publish Ahead … · 2020-07-17 · Pantaleoni, MD1, Anna Ardissone , MD5, Cinzia Gellera, PhD 4, Laura Farina, MD2, 3 1 Developmental

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

ServicesUpdated Information &

367.citation.fullhttp://n.neurology.org/content/early/2020/07/17/WNL.0000000000010including high resolution figures, can be found at:

Subspecialty Collections

http://n.neurology.org/cgi/collection/neuropsychological_assessmentNeuropsychological assessment

http://n.neurology.org/cgi/collection/mriMRI

http://n.neurology.org/cgi/collection/metabolic_disease_inheritedMetabolic disease (inherited)

http://n.neurology.org/cgi/collection/developmental_disordersDevelopmental disordersfollowing collection(s): This article, along with others on similar topics, appears in the

  Permissions & Licensing

http://www.neurology.org/about/about_the_journal#permissionsits entirety can be found online at:Information about reproducing this article in parts (figures,tables) or in

  Reprints

http://n.neurology.org/subscribers/advertiseInformation about ordering reprints can be found online:

rights reserved. Print ISSN: 0028-3878. Online ISSN: 1526-632X.1951, it is now a weekly with 48 issues per year. Copyright © 2020 American Academy of Neurology. All

® is the official journal of the American Academy of Neurology. Published continuously sinceNeurology