Transorbital Cerebrospinal Fluid Fistula Associated with Oculocerebrocutaneous Syndrome

Introduction: Oculocerebrocutaneous syndrome (OCCS) is a rare neurocutaneous disorder of unknown etiology. We describe the first case in which cerebrospinal fluid (CSF) was identified within the associated orbital cyst. The CSF fistula was ultimately treated via endoscope-assisted eyebrow craniotomy.

Case Report: An infant was initially evaluated at the age of 9 months for a progressively enlarging orbital cyst associated with apparent congenital left anophthalmia and periorbital skin appendage. Brain MRI showed agenesis of the corpus callosum, polymicrogyria, and multiple intracranial cysts, as well as multiple incidental tuberculomas. CT scan showed expansile distortion of the affected orbit but an intact orbital roof.

The patient was taken to surgery where the cyst was aspirated and excised. Aspirate was positive for β-2 transferrin, although no intracranial communication was observed on orbital exploration. No identifiable normal structures traversed the superior orbital fissure or optic canal as seen from inside the orbit. Satisfactory cosmesis was achieved. Pathology analysis confirmed congenital cystic eye, a rare ocular malformation caused by partial or complete arrest in the invagination of the primary optic vesicle during the third and fourth week of fetal development.

Postoperatively, the patient leaked clear fluid from the surgical site which was also positive for β-2 transferrin. She returned to surgery for an eyebrow craniotomy and endoscope-assisted extradural/intradural exploration of the orbital roof and superior orbital fissure (SOF). The SOF was covered by a thin arachnoid membrane, and there were no identifiable associated cranial nerves or blood vessels. There was no direct observation of CSF fistula, but the SOF was covered with a piece of DuraGen and fibrin glue. No subsequent drainage from the orbit was observed.

Discussion: OCCS is characterized by congenital anomalies of the eye, skin, and central nervous system. Fewer than 40 cases have been reported. Case reports have described successful treatment with simple cyst aspiration and sclerotherapy. Beta-2 transferrin is a molecule found only in CSF; this has not been previously reported in OCC-associated cyst aspirates. The presumed CSF fistula was likely at the orbital apex although this was not directly confirmed on exploration.

Conclusion: Optimal treatment and long-term outcomes for OCCS are not well characterized. The associated orbital cyst may communicate with CSF and treatment approaches should consider this factor. Transcranial surgery may be necessary for adequate control.