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A 7-month-old boy was found to have developmental delay, abnormal muscle tone, and abnormal eye movement in December 2012. Physical examination of the eyes revealed wandering gaze with convergent squint. Ophthalmology was consulted and bilateral retrolental masses were suspected. Blood tests revealed elevated serum creatine kinase level. Computed tomography of orbits showed bilateral hyperdense retrolental tubular opacities with small retinal haemorrhage on the right (Fig 1). Computed tomography of brain also showed communicating hydrocephalus. Magnetic resonance imaging of orbits showed deformed bilateral globes, abnormal T1-weighted and T2-weighted hypo–to– iso-intense contrast-enhancing triangular bands with base near the optic disc and apex at the posterior surface of lens, compatible with bilateral persistent hyperplastic primary vitreous. T1and T2-weighted hyperintensity at right vitreous body was compatible with previous haemorrhage. Magnetic resonance imaging of the brain showed pachygyria, hydrocephalus, absent septum pellucidum, and hypoplasia of corpus callosum forming type II lissencephaly (Fig 2). Mega cisterna magna, hypoplastic pons, and cerebellar vermis were compatible with posterior cranial fossa malformation (Fig 3). Band-like structures in the bilateral periventricular regions with signal changes similar to grey matter were suggestive of band heterotopic grey matter. Radiological findings of type II lissencephaly, posterior fossa malformation and retinal anomaly, together with clinical findings of developmental delay, abnormal muscle tone, and elevated serum creatine kinase level were compatible with diagnosis of Walker-Warburg syndrome.

Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities