Teaching Neuroimages: Waardenburg Syndrome Type 2: Neurology 2019 92:E1935-E1936. Doi:10.1212/Wnl.0000000000007318

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Teaching NeuroImages: Waardenburg syndrome

type 2
Marcos Rosa Júnior, MD, PhD, Larissa Marques Santana, MD, Bernardo Faria Ramos, MD, PhD, and Correspondence
Henrique Faria Ramos, MD, PhD Dr. Rosa Júnior
®
[email protected]
Neurology 2019;92:e1935-e1936. doi:10.1212/WNL.0000000000007318
Figure 1 Vivid blue eyes
Bilateral isohypochromia iridis (vivid blue eyes) in our patient.
A 5-year-old boy presented with bilateral congenital sensorineural hearing loss and bilateral MORE ONLINE
isohypochromia iridis without dystopia canthorum. MRI showed a shortened posterior semi-
circular canal (figures 1 and 2) compatible with Waardenburg syndrome (WS). Teaching slides
links.lww.com/WNL/
WS is a rare genodermatosis that affects 1:40,000 children and is caused by abnormal migration A860
of melanoblasts from the neuroectoderm. There are 4 types of WS (1 and 3, autosomal
dominant; 2 and 4, dominant or recessive). Type 2 differs from type 1 due to the absence of
dystopia canthorum. Type 3 is associated with musculoskeletal abnormalities and type 4 with
Hirschsprung disease.1,2
Author contributions
M. Rosa Júnior: design or conceptualization of the study, analysis or interpretation of the data,
drafting or revising the manuscript for intellectual content. L.M. Santana: analysis or in-
terpretation of the data. B.F. Ramos: analysis or interpretation of the data, drafting or revising
the manuscript for intellectual content. H.F. Ramos: analysis or interpretation of the data,
drafting or revising the manuscript for intellectual content.
Study funding
No targeted funding reported.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full
disclosures.
From the Departments of Neuroradiology (M.R.J.), Radiology (L.M.S.), and Otorhinolaryngology (B.F.R., H.F.R.), Hospital Universitário Cassiano Antônio de Moraes da Universidade
Federal do Espı́rito Santo–HUCAM/UFES/EBSERH, Vitória ES, Brazil.
Go to Neurology.org/N for full disclosures.
Copyright © 2019 American Academy of Neurology e1935

Copyright © 2019 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.
Figure 2 MRI in Waardenburg syndrome
(A–C) Axial T2-weighted imaging (T2WI) shows normal superior semicircular canal (SC) (white arrows), normal lateral SC (yellow arrows), and shortened and
thick posterior SC (red arrows). (D) Sagittal T2WI and (E) 3D posterior view show normal superior SC (white arrow) and abnormal posterior SC (red arrow).
References 2. Soni CR, Kumar G. Child Neurology: a patient with dissimilar eye color and deafness.
1. Read AP, Newton VE. Waardenburg syndrome. J Med Genet 1997;34:656–665. Neurology 2010;74:e25–e26.
e1936 Neurology | Volume 92, Number 16 | April 16, 2019 Neurology.org/N

Copyright © 2019 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.
Teaching NeuroImages: Waardenburg syndrome type 2
Marcos Rosa Júnior, Larissa Marques Santana, Bernardo Faria Ramos, et al.
Neurology 2019;92;e1935-e1936
DOI 10.1212/WNL.0000000000007318
This information is current as of April 15, 2019
Updated Information & including high resolution figures, can be found at:
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References This article cites 2 articles, 2 of which you can access for free at:
http://n.neurology.org/content/92/16/e1935.full#ref-list-1
Subspecialty Collections This article, along with others on similar topics, appears in the
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http://n.neurology.org/cgi/collection/audition
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http://n.neurology.org/cgi/collection/mri
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