To the Editor: The Medical Mystery in the October 6 issue1 showsa 10-year-old boy with one brown and one blue eye, with mildptosis and miosis of the lighter, left eye (Fig. 1). Both eyesrespond equally to light and have normal vision; both are normalon funduscopic examination. The eyes of the boy's father areblue, and the mother's are gray. At 10 months of age, the boywas given a diagnosis of a left-sided paraspinal neuroblastoma(C7), extending to the upper thoracic vertebrae and enteringthe intraspinal canal, with bone marrow involvement (stage 4).After undergoing emergency decompression, chemotherapy, andsurgery, the boy is in complete remission but has a loss ofsweating (anhidrosis) on the left side of the face and torso.This finding is compatible with left Horner's syndrome, a regionaldisturbance of the sympathetic nervous system caused by theparavertebral tumor. A unilateral lack of sympathetic stimulationin childhood interferes with melanin pigmentation of the melanocytesin the superficial stroma of the iris, resulting in heterochromia.This clinical finding might be useful in the early diagnosisof lesions affecting the sympathetic nerves.
Benjamin Gesundheit, M.D., Ph.D. Mark Greenberg, M.D. Hadassah University Hospital 91120 Jerusalem, Israel
Editor's note: We received 1642 responses to this medical mystery,including 54 percent from physicians in practice, 19 percentfrom physicians in training, and 14 percent from medical students.Responses were received from 77 countries. Of the respondents,71 percent correctly identified Horner's syndrome (which issometimes called the Horner–Bernard syndrome) with heterochromia;21 percent correctly identified the lesion as a cervical neuroblastomaimpinging on the sympathetic chain. Other respondents providedsuch answers as Waardenburg's syndrome, retinoblastoma, chimerism,Fuchs' syndrome, and varicella. In addition to the classic findingsof Horner's syndrome and heterochromia, this case highlightsthe importance of sympathetic innervation for proper melanocyteactivity in the iris. Pigmentation of the iris is usually completeby the age of two years.
References
Gesundheit B, Greenberg M. Medical mystery -- one brown eye and one blue eye. N Engl J Med 2005;353:1502-1502. [Free Full Text]
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