Abstract
Delleman-Oorthuys or oculocerebrocutaneous syndrome (OCCS) is an extremely rare condition which relies on three pillars of manifestations: ophthalmological, neurological, and dermatological. It was first described by Delleman and Oorthuys in 1981, and since then, very few other cases have been reported. We report the case of a 13-month-old boy, referred to an ophthalmological tertiary service for investigation of a microglobe with a cystic retrobulbar mass on translucency test. MRI revealed a left microphthalmia, with extensive retrobulbar cystic lesions occupying the remaining orbit and protruding anteriorly the microglobe. Cerebral findings included polymicrogyria, subependymal nodular heterotopia at the level of the left occipital horn of the lateral ventricle, and an importantly enlarged mesencephalic tectum observed in association with an absent cerebellar vermis. The ensemble of malformations met the criteria for definite OCCS. Being a tremendously rare syndrome, OCCS will always represent a diagnostic challenge. However, its emblematic cutaneous manifestations might be an important part of the road map leading to its correct interpretation. Thus, when absent, diagnosis can be harder than usual, and, on these cases, neurologists, ophthalmologists, and radiologists play a crucial role.
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Sprenger, F., de Oliveira Salvador, G.L., Vinholi, G. et al. From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations. Childs Nerv Syst 38, 1189–1193 (2022). https://doi.org/10.1007/s00381-021-05366-7
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DOI: https://doi.org/10.1007/s00381-021-05366-7