title: 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.
authors.affiliation: Department of Pediatrics, Tahar Sfar University Hospital, 5111 Mahdia, Tunisia.
authors.forename: H
authors.initials: H
authors.lastname: Ben Hamouda
authors.forename: M N
authors.initials: MN
authors.lastname: Sfar
authors.forename: R
authors.initials: R
authors.lastname: Braham
authors.forename: M
authors.initials: M
authors.lastname: Ben Salah
authors.forename: A
authors.initials: A
authors.lastname: Ayadi
authors.forename: H
authors.initials: H
authors.lastname: Soua
authors.forename: H
authors.initials: H
authors.lastname: Hamza
authors.forename: M T
authors.initials: MT
authors.lastname: Sfar
mesh_terms: D000015:Abnormalities, Multiple; D061085:Agenesis of Corpus Callosum; D002869:Chromosome Aberrations; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus; D007231:Infant, Newborn; D008297:Male; D010022:Osteopetrosis / Q000209:etiology* / Q000235:genetics / Q000473:pathology