Medical Mystery: Brown Eye and Blue Eye — The Answer
http://www.100md.com
《新英格兰医药杂志》
To the Editor: The Medical Mystery in the October 6 issue1 shows a 10-year-old boy with one brown and one blue eye, with mild ptosis and miosis of the lighter, left eye (Fig. 1). Both eyes respond equally to light and have normal vision; both are normal on funduscopic examination. The eyes of the boy's father are blue, and the mother's are gray. At 10 months of age, the boy was given a diagnosis of a left-sided paraspinal neuroblastoma (C7), extending to the upper thoracic vertebrae and entering the intraspinal canal, with bone marrow involvement (stage 4). After undergoing emergency decompression, chemotherapy, and surgery, the boy is in complete remission but has a loss of sweating (anhidrosis) on the left side of the face and torso. This finding is compatible with left Horner's syndrome, a regional disturbance of the sympathetic nervous system caused by the paravertebral tumor. A unilateral lack of sympathetic stimulation in childhood interferes with melanin pigmentation of the melanocytes in the superficial stroma of the iris, resulting in heterochromia. This clinical finding might be useful in the early diagnosis of lesions affecting the sympathetic nerves.
Figure 1. One Brown Eye and One Blue Eye.
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 percent from 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 is sometimes called the Horner–Bernard syndrome) with heterochromia; 21 percent correctly identified the lesion as a cervical neuroblastoma impinging on the sympathetic chain. Other respondents provided such answers as Waardenburg's syndrome, retinoblastoma, chimerism, Fuchs' syndrome, and varicella. In addition to the classic findings of Horner's syndrome and heterochromia, this case highlights the importance of sympathetic innervation for proper melanocyte activity in the iris. Pigmentation of the iris is usually complete by 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.
Figure 1. One Brown Eye and One Blue Eye.
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 percent from 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 is sometimes called the Horner–Bernard syndrome) with heterochromia; 21 percent correctly identified the lesion as a cervical neuroblastoma impinging on the sympathetic chain. Other respondents provided such answers as Waardenburg's syndrome, retinoblastoma, chimerism, Fuchs' syndrome, and varicella. In addition to the classic findings of Horner's syndrome and heterochromia, this case highlights the importance of sympathetic innervation for proper melanocyte activity in the iris. Pigmentation of the iris is usually complete by 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.