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Oculocerebrocutaneous Syndrome?-Reply

ABNER H. LEVKOFF, MD
Am J Dis Child. 1990;144(7):750. doi:10.1001/archpedi.1990.02150310016011.
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ABSTRACT

In Reply.—The skin appendages seen in our infant do seem to resemble those seen in oculocerebrocutaneous syndrome. The striking difference, however, was the contractile movement of these appendages and the histologic appearance of striated muscle bundles. Furthermore, with a normal brain computed tomographic scan, there was no diagnosable central nervous system abnormality present. Lastly, there was no orbital cyst formation. Given all that, we believe the case did not warrant the diagnosis of oculocerebrocutaneous syndrome. Instead, we chose to describe what we saw as congenital rhabdomyomatous mesenchymal hamartoma.

Recently, a corneal transplant was performed on the left eye; the retina appeared normal. An ultrasound examination of the right eye revealed mild to moderate retinal detachment.

At this writing, the infant is approximately 1 year of age with normal motor milestones and verbalization. He has not had any seizure activity.

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