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Congenital muscular dystrophydystroglycanopathy with brain and eye anomalies (type A) has a highly variable clinical spectrum. It is a genetically heterogeneous, autosomal recessive disorder with severe mental retardation, congenital muscular dystrophy, characteristic eye and brain malformations that result in premature death. Clinical spectrum can vary from the most severe form, Walker Warburg syndrome (WWS), to a less severe form of muscle-eye-brain (MEB) disease (1). Its incidence is unknown. In MEB disease, patients can be able to walk in rare instances and speak with a few words. However, clinical presentation is more severe in WWS and the patients generally die in the first year of life. These disorders belong to a group of disease known as dystroglycanopathies caused by glycolysation defect in dystrophin-associated glycoprotein 1 DAG1 (2). In WWS, the most common clinical findings include cobblestone (type 2) lissencephaly, cerebellar malformations and retinal malformations, while presence or absence of congenital contractures, cleft lip and palate, macrocephaly or microcephaly, hypoplasia in midbrain structures, ventricular dilatation and microphthalmia are highly variable (1). Here, we presented a case which is thought to be an intermediate form between WWS and MEB with its phenotypic features, laboratory findings and cerebral magnetic resonance imaging (MRI) features, as it displayed features that aren’t reported previously including enophthalmia, interhemispheric cyst and cerebral hematoma.

Two novel associations in a case with Walker Warburg syndrome; Enophthalmia, interhemispheric cyst and cerebral hematoma