Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker–Warburg syndrome

Walker-Warburg syndrome (WWS) is an autosomal recessive disorder with alterations affecting the CNS that are characteristic of type-II lissencephaly and dysplasia/hypoplasia of the cerebellum. Other than these features, WWS is typically also accompanied by muscular dystrophy and abnormalities affecting the eyes. There is at present little information on the state of microglial and mononuclear phagocytic cell responses within the brain in WWS. In this case report, we present evidence for focal and differential activation of mononuclear phagocytes specifically confined to the dysplastic cerebellum of an infant at 5 months of age, diagnosed with WWS.