CONGENITAL CYSTIC EYE WITH CORPUS CALLOSUM HYPOPLASIA: MRI FINDINGS Pedro S. Pinto, Valentina Ribeiro, Bruno Moreira Department of Neuroradiology Centro Hospitalar do Porto, Porto, Portugal

Introduction Congenital cystic eye (CCE) –“Anophthalmia with cyst” –Very rare congenital anomaly –Associated with other malformations Ocular Brain –Diagnosis Clinical Imaging Pathology

Embriology Congenital cystic eye (CCE) –4 th week gestation –Failure in invagination of the primary optic vesicle –Cystic structure

Cystic Lesions Orbit Cysts surface epithelium Simple epithelial cysts Dermoid cysts Teratomatous cyst Teratoma Secondary cysts MucoceleDentigerous cyst Inflammatory cysts Echinococcal cystCysticercosis Noncystic lesions with cystic component Adenoid cystic carcinoma RhabdomyosarcomaLymphangioma Neural cysts Shields et al, Survey of Ophthalmology, 2004

Neural Cysts Neural cysts associated with ocular maldevelopment Congenital cystic eye Colobomatous cyst Neural cysts associated with brain and meningeal tissue Cephalocele and ectopic brain tissue Orbital optic nerve meningocele Shields et al, Survey of Ophthalmology, 2004

Purpose Report the magnetic resonance imaging findings and its role in differential diagnosis of a case of congenital cystic eye with intracranial abnormalities

3 month-old male – outpatient center Microphalmos Cystic lesion protruding from the left orbit, stretching the upper eyelid – since birth – no change in the size No significant previous medical history – delivery, pregnancy, labor – consanguinity, familiar genetic diseases Case Report

Clinical examination – superficial bluish soft tissue mass in the left orbit – non-pulsatile – cystic in consistency and transilluminant – behind the upper eyelid – no globe identified – no facial deformities – right eye normal – no focal neurological deficits Case Report

MRI scan T2 T1T1 C+

MRI scan T2

MRI scan Diagnosis: left Congenital Cystic Eye T1T2 T1

Result of absence of primary optic invagination? Modification of size of lesion? Etiology? Management? Discussion

Ocular Contralateral microphthalmia with cyst Non-ocular Facial midline malformations Malformations of the sphenoid bone Intracranial abnormalities – agenesis of corpus callosum – basal encephalocele – holoprosencephaly – schizencephaly – polymicrogyria – midbrain deformity Discussion - Associations

Literature Cystic non-enhancing lesion Solid portion with mild or moderate enhancement Globe is not identified Extraocular muscles are absent or hypoplastic Absence of optic nerve Our case Cystic lesion Solid portion with faint contrast enhancement Extraocular muscles normal Thin optic nerve Brain malformations Discussion – Imaging features

What are the main differential diagnosis? – Microphthalmos with cyst – Microphthalmia with cystic teratoma – Meningoencephalocele – Optic nerve meningocele Discussion

Congenital cystic eye is a rare congenital orbit malformation MRI has a crucial role – Differential diagnosis – Preoperative management and identify other associated intracranial anomalies that can hamper the normal development of the child. Total surgical resection remains the treatment of choice Conclusion

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