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Purpose : Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4 th chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case of WHS associated with optic nerve head malformation and optic nerve sheath enlargement in the same eye. Methods : Case report Results : A male infant was delivered by Caesarean section at 38 weeks with a birth weight of 2040 gr and admitted to neonatal intensive care unit due to multi-systemic abnormalities. The infant had multiple congenital anomalies; a cleft palate, microcephalia, micrognathia, renal pelvicalyceal ectasia, atrial septal defect, transvers arcus hypoplasia, patent ductus arteriosus, hypospadias and undescended testicle. Fundus examination revealed optic disc coloboma of both eyes. Two weeks later, at the second examination, the left optic disc margins were indistinct with vessels radiating from the disc margins which resembles morning glory disc anomaly (MGDA). The MRI demonstrated corpus callosum agenesis and a T1 hypointense, T2 hyperintense, 12 × 9 mm optic nerve sheath enlargement in the retrobulbar area. Conclusion : The case presented here demonstrates that, the optic nerve head malformations and optic nerve sheath enlargement may be due to incomplete closure of choroidal fissure and subsequent accumulation of cerebrospinal fluid may result in a spectrum of optic nerve head malformations.

Introduction: Persistent craniopharyngeal canal (PCC) is a rare anomaly of the base of the skull. PCC is defined as a well-corticated osseous canal, extending from the roof of the nasopharynx to the base of the sella over the course of the sphenoid corpus. We reported a PCC case with unique associations. The magnetic resonance imaging findings are discussed., Case Presentation: We report a case of a 2-year-old boy with persistent craniopharyngeal canal, bilateral microphtalmia with large colobomatous cyst, and ectopic adenohypophysis with Rathke cleft cyst. He also has ectopic neurohypophysis and optic atrophy., Conclusion: The presence of orbital and optic tract malformations, craniofacial and intracranial anomalies, and tumors can accompany craniopharyngeal canals (CCs). MRI is helpful in the evaluation of PCC and associated anomalies in these patients.

Colobomatous cyst of the orbit is a rare congenital cystic malformation associated with ocular maldevelopment. Usually, the cyst is associated with a microphthalmic globe. We present a rare case of a unilateral large colobomatous cyst associated with a normal-sized globe, giving the appearance of a double globe on imaging.

Colobomatous cyst of the orbit is a rare congenital cystic malformation associated with ocular maldevelopment. Usually, the cyst is associated with a microphthalmic globe. We present a rare case of a unilateral large colobomatous cyst associated with a normal-sized globe, giving the appearance of a double globe on imaging.