The Case of the Blue/Brown-Eyed Girl

Sudip D. Thakar, BSc; Kimberly G. Yen, MD


May 24, 2016

Case Diagnosis

Chédiak-Higashi syndrome is a phagolysosomal fusion disorder due to microtubular dysfunction that causes recurrent pyogenic infections, oculocutaneous albinism, and neuropathic features.[1] The lack of infection or neuropathy makes this an unlikely diagnosis.

Hermansky-Pudlak syndrome also has oculocutaneous findings, due to a defect in platelet storage. However, patients with this syndrome are very prone to bleeding episodes and susceptible to developing multisystemic manifestations, such as pulmonary fibrosis, immunodeficiency, and granulomatous colitis,[2] which was not true of this patient.

Tyrosinase-negative oculocutaneous albinism is not present in this case; patients with this condition are incapable of producing melanin owing to a lack of tyrosinase activity. They present with pale skin, white hair, and a characteristic translucent iris that can be "pink-eyed" in appearance.[3]

On the basis of the clinical and physical examination, the patient's presentation was believed to be most consistent with Waardenburg syndrome. The complete heterochromia iridis, poliosis (patch of white hair), and hearing impairment are classic features of Waardenburg syndrome.[4] The verbal delay was felt to be most likely secondary to the hearing impairment.

Clinical Course

The patient was referred to a geneticist, who confirmed the diagnosis of Waardenburg syndrome. She also has been followed by otorhinolaryngology and audiology for hearing loss, auditory habilitation, and determination of optimal age for cochlear implants.


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