An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome.

Purpose : Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4th 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.