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CONGENITAL CYSTIC EYE WITH CORPUS CALLOSUM HYPOPLASIA: MRI FINDINGS

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

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CONGENITAL CYSTIC EYE WITH CORPUS CALLOSUM HYPOPLASIA: MRI FINDINGS

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  1. 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

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

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

  4. Shields et al, Survey of Ophthalmology, 2004

  5. Shields et al, Survey of Ophthalmology, 2004

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

  7. Case Report • 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

  8. 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

  9. MRI scan T2 T2 T1 T1 C+

  10. MRI scan T2 T2 T2

  11. MRI scan T2 T2 T1 T1 Diagnosis: left Congenital Cystic Eye

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

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

  14. Discussion – Imaging features Literature Our case Cystic lesion Solid portion with faint contrast enhancement Extraocular muscles normal Thin optic nerve Brain malformations • 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

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

  16. Conclusion • 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

  17. Thanks!

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