Case Report

Delleman-Oorthuys Syndrome: A Neurocutaneous Syndrome with a Congenital Eye Cyst

Authors: Farouk AG, Ibrahim HU, Ruqayyah AI, Rasheed MW.

DOI: 10.33425/2768-6647.1037

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Abstract

Delleman-Oorthuys syndrome is a rare congenital anomaly of unknown aetiology. It is also called Oculocerebrocutaneous syndrome that characteristically involves ectomesodermal tissues such as the eyes, central nervous system, and the integument. We report a 2-year-old boy with an orbital cyst in the left eye along with other manifestations of this disorder since birth.

Physical examination revealed a huge left eye cyst. An ultrasound scan of the left orbit showed a huge thick-walled cystic lesion involving the left globe with multiple internal strands and echoes. Computed tomography of the brain revealed severe atrophy of the left cerebral hemisphere in addition to characteristic cerebral malformations of Delleman-Oorthuys syndrome.

This report highlights the need for extensive neuroimaging in searching for life-threatening cerebral atrophy; unfortunately, genetic studies that could shed light on this syndrome are not available in our resource-constrained settings.

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