Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum

Abstract

A severe form of autosomal recessive osteopetrosis associated with Dandy-Walker syndrome and agenesis of the corpus callosum is reported in a full-term boy born to consanguineous parents. The diagnosis was made shortly after birth. Clinical features were cranio-facial dysmorphy, macrocephaly, hepatosplenomegaly, severe anemia and thrombocytopenia. Skeletal radiographs revealed generalized increase in bone density and abnormal metaphyseal remodeling. Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus. The patient rapidly developed severe medullary deficiency and a severe pulmonary infection. He died at the age of 2 months. This association seems extremely rare and was not previously reported in the literature.