J Korean Ophthalmol Soc.  2013 Jan;54(1):176-179. 10.3341/jkos.2013.54.1.176.

A Case of Waardenburg Syndrome Type 4

• Shim HC
• Kim JK
• Park DJ

• KMID: 2216469
• DOI: http://doi.org/10.3341/jkos.2013.54.1.176

Abstract

PURPOSE
To report the first case of Waardenburg syndrome type 4 in Korea.
CASE SUMMARY
A 3-year-old boy visited our clinic to have his abnormal right eye iris color checked. The patient had a previous operation Hirschsprung's disease. In addition, his older sister and aunt showed similar ocular findings. A general physical examination, hearing test, and fundus examination were performed. On examination, hypochromic heterochromic iridum, albinism of the posterior pole upon ipsilateral fundus, and dystopia canthorum were found. There was no abnormal finding in the hearing test.
CONCLUSIONS
The patient showed hypochromic heterochromic iridum, dystopia canthorum, and albinism of ipsilateral fundus. He also had a family history of Waardenburg syndrome and had surgery associated with congenital megacolon. The patient was diagnosed with Waardenburg syndrome type 4.

Keyword

Hirschsprung's disease; Hypochromic heterochromic iridum; Waardenburg syndrome

MeSH Terms

Albinism
Child, Preschool
Hearing Tests
Hirschsprung Disease
Humans
Iris
Korea
Male
Physical Examination
Siblings
Waardenburg Syndrome*

Figure

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  Figure 1. Unilateral hypochromic heterochromic iridum (OD) and dystopia canthorum.

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  Figure 2. Albinoid appearance in the fundus (OD).

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  Figure 3. Simple abdomen X-ray before Duhamel's operation (A) and after Duhamel's operation (B).

Reference

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