DOI: 10.1212/WNL.0000000000010424 Neurology Publish Ahead ... · 7/20/2020 · Lokesh Saini, MD,...
Transcript of DOI: 10.1212/WNL.0000000000010424 Neurology Publish Ahead ... · 7/20/2020 · Lokesh Saini, MD,...
Neurology Publish Ahead of PrintDOI: 10.1212/WNL.0000000000010424
Epileptic spasms and characteristic ophthalmologic findings: A diagnostic conundrum
Chaithanya Reddy1, MD; Muhammed Basil2, MBBS; Priyanka Madaan3, DM; Lokesh Saini4, DM;
Sameer Vyas5, DM; Simar Rajan Singh6, MS; Deeksha Katoch7, MS; and Jitendra Kumar Sahu8, DM
1Senior Resident, Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre,
Post graduate Institute of Medical Education & Research (PGIMER), Chandigarh, India-160012 2Junior Resident, Department of Pediatrics, Advanced Pediatrics Centre, PGIMER, Chandigarh,
India-160012 3Senior Research Associate, Pediatric Neurology Unit, Department of Pediatrics, Advanced
Pediatrics Centre, PGIMER, Chandigarh, India-160012 4Assistant Professor, Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics
Centre, PGIMER, Chandigarh, India-160012 5Additional Professor, Department of Radiodiagnosis and Imaging (section of neuroimaging and
interventional radiology), PGIMER, Chandigarh, India-160012 6Research Associate, Advanced Eye Centre, PGIMER, Chandigarh, India-160012 7Assistant Professor, Advanced Eye Centre, PGIMER, Chandigarh, India-160012 8Additional Professor, Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics
Centre, PGIMER, Chandigarh, India-160012
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 20, 2020 as 10.1212/WNL.0000000000010424
Corresponding Author: Dr. Priyanka Madaan, [email protected]
Search terms: [79] Infantile spasms, [120] MRI, [227] All Pediatric, [60] All epilepsy Publication History: not previously published Submission Type: Teaching neuroimage Title Character count: 86 Number of Tables: 0 Number of Figures: 2 Word Count of Paper: 100
Statistical Analysis: Not applicable
Acknowledgements: Authors thank the parents of the patient for images and adding to the literature.
Written informed consent was obtained from the parents. The patient was a part of project supported
by Council of Scientific and Industrial Research, New Delhi.
Study Funding:
No targeted funding reported.
Disclosure:
The authors report no relevant disclosures.
ACCEPTED
Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited
A 3-month-old girl presented with developmental delay and clustered asymmetric epileptic spasms
(video, http://links.lww.com/WNL/B177). She was first-born to non-consanguineous healthy parents
with a smooth perinatal transition. Examination revealed normal head size, central hypotonia, and
characteristic fundus findings (figure 1A–B). Electroencephalography revealed hypsarrhythmia
(figure 1C). Peculiar fundus and neuroimaging findings (figure 2) confirmed the diagnosis of Aicardi
syndrome (AS). Epileptic spasms failed to respond to adrenocorticotropin and vigabatrin. This report
re-emphasizes the utility of skillful neuroophthalmological assessment in children with epileptic
spasms.
AS is an X-linked dominant, callosal agenesis syndrome with a dismal prognosis1. Besides AS,
callosal agenesis has been associated with many polymalformative syndromes which should be
considered with screening.2
Appendix 1. Authors
Name Location Contribution
Bandi V Chaithanya Reddy, MBBS, MD
PGIMER, Chandigarh, India
Patient management, literature review, initial draft manuscript preparation, and final approval of the version to be published
Muhammed Basil, MBBS
PGIMER, Chandigarh
Patient management, literature review, and final approval of the version to be published
Priyanka Madaan, MD, DM
PGIMER, Chandigarh and CSIR, New Delhi, India
Patient management, analysis of EEG, literature review, critical review of manuscript for important intellectual content, and final approval of the version to be published
Lokesh Saini, MD, DM
PGIMER, Chandigarh, India
Patient management, critical review of the manuscript, and final approval of the version to be published
Sameer Vyas, MD, DM
PGIMER, Chandigarh, India
Analysis of the radiologic data, critical review of manuscript, and final approval of the version to be published
Simar Rajan Singh, MBBS, MS
PGIMER, Chandigarh, India
Analysis of Retcam images, Patient management, and final approval of the version to be published
Deeksha Katoch, MBBS,MS
PGIMER, Chandigarh, India
Analysis of Retcam images, Patient management, and final approval of the version to be published
ACCEPTED
Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited
Jitendra Kumar Sahu, MD, DM
PGIMER, Chandigarh, India
Patient management, critical review of manuscript for important intellectual content, and final approval of the version to be published
Video-http://links.lww.com/WNL/B177
Teaching Slides-http://links.lww.com/WNL/B178
References
1. Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: Spasms in flexion, callosal agenesis,
ocular abnormalities. Electroencephalogr Clin Neurophysiol 1965; 19:609-10.
2. Reddy C, Bhattacharya D, Madaan P, Saini L. Corpus callosum agenesis with
interhemispheric cyst: a neuroimage to remember. BMJ Case Rep. 2019;12(7). pii: e231375
ACCEPTED
Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited
Legends
Figure 1. Fundus and electroencephalography findings in index patient
Retcam images of right (A) and left-eye (B) show multiple, ovoid, hypopigmented areas (white
arrows) around optic-disc suggesting chorio-retinal lacunae. Also, note an optic-disc-coloboma (black
asterisk; B), with hyperpigmented edge. 10s EEG epoch (Figure 1C; Pediatric montage; sensitivity:
100 uV; sweep speed: 30 mm/s) shows high-amplitude-slow-waves with bursts of polyspike-wave
discharges followed by attenuation, consistent with modified hypsarrhythmia.
ACCEPTED
Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited
Figure 2. Brain MRI of the index patient
Axial T2-weighted (A-C), and T1-weighted sagittal (D), coronal (E), and axial (F) images showing an
extra-axial cyst in posterior fossa (white arrows) with cerebellar hypoplasia. Also, note colpocephaly,
non-visualization of corpus callosum, midline dorsal interhemispheric cyst (asterisks), nodular
periventricular heterotopia in right parietal region (arrowhead), and polymicrogyria in left frontal lobe
(oval markers).
Video. The characteristic seizure semiology in the index patient
Note the characteristic epileptic spasms in the index patient. Each paroxysm consist of clustered
flexor spasms alternating with asymmetric mixed spasms (left hemiextensor and right hemiflexor with
left head turn, version, and nystagmus).
ACCEPTED
Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited
DOI 10.1212/WNL.0000000000010424 published online July 20, 2020Neurology
Chaithanya Reddy, Muhammed Basil, Priyanka Madaan, et al. findings: A diagnostic conundrum
Teaching Video NeuroImages: Epileptic spasms and characteristic ophthalmologic
This information is current as of July 20, 2020
ServicesUpdated Information &
424.citation.fullhttp://n.neurology.org/content/early/2020/07/20/WNL.0000000000010including high resolution figures, can be found at:
Subspecialty Collections
http://n.neurology.org/cgi/collection/mriMRI
http://n.neurology.org/cgi/collection/infantile_spasmsInfantile spasms
http://n.neurology.org/cgi/collection/all_pediatricAll Pediatric
http://n.neurology.org/cgi/collection/all_epilepsy_seizuresAll Epilepsy/Seizuresfollowing 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