Delleman Oorthuys Syndrome, A Rare Case (Oculocerebrocutaneus Syndrome)

1. Widya Prafitri Rasmiyati¹
2. Hartono¹
3. Wasisdi Gunawan¹
4. Sagung G. Indrawati¹
5. Retno Danarti²

¹Departement of Ophthalmology Faculty Of Medicine Universitas Gadjah Mada, Yogyakarta, Indonesia
²Departement of Dermatology Faculty Of Medicine Universitas Gadjah Mada, Yogyakarta, Indonesia

To report a Delleman Oorthuys Syndrome (Oculocerebrocutaneus Syndrome)

Method: A 4- day old baby referred from obstetric and gynecologist department to ophthalmology department Sardjito General Hospital due to ocular swelling and focal dermal defect since birth. The baby had a normal birth history and was born from healthy parents, a 39-year old father and 38-year-old mother .There was no history of consanguinity in the parents and had one elder healthy sibling, a female of fourtheen years old

Result: Physical examination revealed orbital cyst, anophthalmia of the right eye, and microphthalmia of the left eye, eyelid coloboma, periocular cystic appendages, skin tags, focal dermal hypoplasia in neck region.

A large cystic swelling in the right orbita was positive by transillumination test. Skin over the right eyelid swelling was hypoplastic with prominent veins. B-scan ultrasonography for the left eye showed microphthalmia.

MRI examination exhibited : malformations of the ventricular system in the middle of the brain, revealed the excision of Dandy Walker Syndrom association with enlargerment of lateral ventriculy,cerebral cysts, dysplasia cerebellum and agenesis of the corpus callosum.

Conclusion: Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital anomaly affecting the skin, central nervous system, and eyes. Integrated examination and management were needed. The inheritance of this syndrome is unknown, maybe sporadic.