A Male Infant Who Has A White Hair Tuft and Hypopigmented Macules

Joshua Wong

doi:10.1542/pir.33-3-e18

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Joshua Wong, MD*

^*Advocate, Hope Children's Hospital, Oak Lawn, IL.

Author Disclosure
Dr Wong has disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

Abbreviations:

MITF:: microphthalmia-associated transcription factor gene
PAX3:: paired box 3 gene

Presentation

A male infant is born at 39 weeks’ gestation to a 25-year-old G1P1 African American woman. The pregnancy was uncomplicated and the mother received appropriate prenatal care. Results for maternal group B Streptococcus colonization and standard viral serology testing were negative. Delivery is via cesarean delivery because of breech presentation at onset of labor. At delivery, initial examination reveals a prominent tuft of white hair at the forehead hairline (Fig 1), as well as large hypopigmented macules with well-defined borders covering significant areas on the torso and the mid upper and lower extremities (Fig 2). The remainder of the physical examination is normal. Apgar scores are 9 and 9 at 1 and 5 minutes, respectively, and vital signs are normal for age. Weight, length, and head circumference are between the 25th and 50th percentiles. On the second day of life, the baby fails his click auditory brainstem response hearing screen in the left ear, suggesting a preliminary diagnosis.

Figure 1.

Newborn boy with prominent tuft of white hair.

Figure 2.

Prominent depigmented macules on torso and limbs.

Diagnosis: Waardenburg syndrome

Based on the presence of a white forelock, patches of depigmented skin, and sensorineural hearing loss, the infant was diagnosed as having Waardenburg syndrome.

Discussion

Waardenburg syndrome is a rare condition characterized by congenital sensorineural hearing loss, dystopia canthorum (lateral displacement of the inner canthi), and pigmentation abnormalities of the hair, …