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April 16, 2019; 92 (16) Resident & Fellow Section

Teaching NeuroImages: Waardenburg syndrome type 2

Marcos Rosa Júnior, Larissa Marques Santana, Bernardo Faria Ramos, Henrique Faria Ramos
First published April 15, 2019, DOI: https://doi.org/10.1212/WNL.0000000000007318
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A 5-year-old boy presented with bilateral congenital sensorineural hearing loss and bilateral isohypochromia iridis without dystopia canthorum. MRI showed a shortened posterior semicircular canal (figures 1 and 2) compatible with Waardenburg syndrome (WS).

Figure 1
Figure 1 Vivid blue eyes

Bilateral isohypochromia iridis (vivid blue eyes) in our patient.

Figure 2
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).

WS is a rare genodermatosis that affects 1:40,000 children and is caused by abnormal migration 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 interpretation 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.

Footnotes

References

  1. 1.↵
    1. Read AP,
    2. Newton VE
    . Waardenburg syndrome. J Med Genet 1997;34:656–665.
    OpenUrlAbstract/FREE Full Text
  2. 2.↵
    1. Soni CR,
    2. Kumar G
    . Child Neurology: a patient with dissimilar eye color and deafness. Neurology 2010;74:e25–e26.
    OpenUrlFREE Full Text

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