Pediatric case of the day. Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy).

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

“…Neuroimaging findings other than lissencephaly include band heterotopia, cerebellar vermian hypoplasia, dysgenesis of corpus callosum, abnormal white matter changes, hypoplastic cerebral peduncles, intraventricular haemorrhage, cerebellar polymicrogyria, collicular fusion, and fusion of occipital poles. 4 Laboratory investigations usually show elevated serum creatine kinase level, myopathic/dystrophic muscle pathology, and altered alpha-dystroglycan. 2 Differentiation of Walker-Warburg syndrome from other dystroglycanopathies, for example, muscle-eye-brain disease or Fukuyama CMD, depends on the severity of clinical presentation including motor function and intellectual disability, and involvement of the central nervous system and eye.…”