RESIDENT & FELLOW SECTION

Teaching NeuroImage: The Putaminal Eye

A Highly Characteristic Imaging Feature of MEGDEL Syndrome
Raiya Altamimi, MD, Hesham Aldhalaan, MD, Ehab Tous, and Manal Nicolas-Jilwan, MD Correspondence
Dr. Nicolas-Jilwan
®
Neurology 2023;101:e1943-e1944. doi:10.1212/WNL.0000000000207823 manaljilwan@hotmail.com

Figure Classic Brain MRI Findings in MEGDEL

Axial T2-weighted image (A) showing symmetrical T2 hyperintensity with atrophy of the caudate nuclei (short arrows)
and T2 hyperintensity of the putamina with sparing of their mid-dorsal portions (long arrows). Axial diffusion image
(B) and ADC map (C) showing mixed diffusion characteristics in the areas of injury: restricted diffusion (long arrows,
sites of active injury) and facilitated diffusion (short arrows). Coronal T2-weighted image (D) showing cerebellar
atrophy (arrow). ADC = apparent diffusion coefficient; MEGDEL = methylglutaconic aciduria, deafness, encephalop-
athy, Leigh-like syndrome.

A 22-month-old female child of a consanguineous marriage presented with recurrent nausea, MORE ONLINE
diarrhea, elevated liver enzymes, metabolic acidosis, and developmental regression. Urine analysis
revealed elevated 3-methylglutaric acid and 3-methylglutaconic acid. Brain MRI showed bilateral For multiple-choice
questions relevant to
basal ganglia injury (Figure, A–C) and cerebellar atrophy (Figure, D). Auditory brainstem
Teaching NeuroImages
response assessment demonstrated bilateral profound sensorineural hearing loss. DNA analysis
and Teaching Video
revealed a pathogenic homozygous variant of the SERAC1 gene, diagnostic of methylglutaconic
Downloaded from https://www.neurology.org by 191.98.192.92 on 30 January 2024

NeuroImages, find
aciduria, deafness, encephalopathy, Leigh-like (MEGDEL) syndrome.
@greenjournal on Twitter
using the hashtag
MEGDEL syndrome is an infantile-onset syndrome characterized by dystonia, deafness, pro- #NeurologyRF
gressive spasticity, developmental delay or regression, and 3-methylglutaconic aciduria. The
causative SERAC1 gene encodes a phosphatidylglycerol remodeler, essential for mitochondrial
function and intracellular cholesterol trafficking. When imaging at the appropriate stage (1–4
years of age), the pattern of basal ganglia injury on T2-weighted images sparing the mid-dorsal
putamina, called “putaminal eyes,” is pathognomonic.1 Life expectancy is unknown. Some
patients die in infancy.

Author Contributions
R. Altamimi: drafting/revision of the manuscript for content, including medical writing for con-
tent; analysis or interpretation of data. H. Aldhalaan: drafting/revision of the manuscript for
content, including medical writing for content. E. Tous: drafting/revision of the manuscript for
content, including medical writing for content. M. Nicolas-Jilwan: drafting/revision of the man-
uscript for content, including medical writing for content; major role in the acquisition of data;
study concept or design; analysis or interpretation of data.

From the King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Written work prepared by employees of the Federal Government as part of their official duties is, under the U.S. Copyright Act, a “work of the United States Government” for which
copyright protection under Title 17 of the United States Code is not available. As such, copyright does not extend to the contributions of employees of the Federal Government.

e1943
 Study Funding Publication History
No targeted funding reported. Received by Neurology April 6, 2023. Accepted in final form July 10, 2023.
Submitted and externally peer reviewed. The handling editor was Resident
& Fellow Section Deputy Editor Ariel Lyons-Warren, MD, PhD.
Disclosure
The authors report no relevant disclosures. Go to Neurology. Reference
org/N for full disclosures. 1. Wortmann SB, van Hasselt PM, Barić I, et al. Eyes on MEGDEL: distinctive basal ganglia
involvement in dystonia deafness syndrome. Neuropediatrics. 2015;46(2):98-103.
Downloaded from https://www.neurology.org by 191.98.192.92 on 30 January 2024

e1944 Neurology | Volume 101, Number 19 | November 7, 2023 Neurology.org/N