title: Familial malignant osteopetrosis in children: a case report.
abstract: The clinical, radiological, pathological and laboratory findings of two brothers with autosomal recessive malignant osteopetrosis are presented. Our findings are similar to characteristics previously reported in the literature about patients with osteopetrosis. The 6-year-old male patient was pale and had petechiae on his arms and legs. He also had macrocephalia, splenomegaly, severe pancytopenia, genu valgus, hypocalcemia, amaurosis, cessation of physical development, generalized bone sclerosis and recurrent infections with a history of multiple incidences of acute otitis media. Generalized bone sclerosis and irregular sclerosis of the maxilla and mandible were seen on radiographs. The oral mucosa was apparently normal but permanent tooth eruption was delayed although there was early loss of deciduous teeth. The recommended treatment was blood transfusion and therapy with antibiotics when necessary; a bone marrow transplant was not possible due to lack of a compatible donor.
authors.affiliation: Department of Biosciences and Oral Diagnosis, São Jose dos Campos Dental School, Sao Paulo State University-UNESP, Brazil. mfgomes@fosjc.unesp.br
authors.forename: Mônica Fernandes
authors.initials: MF
authors.lastname: Gomes
authors.forename: Daniela Coelho
authors.initials: DC
authors.lastname: Rangel
authors.forename: Cláudia Cristina Morais
authors.initials: CC
authors.lastname: Starling
authors.forename: Maria das Graças Vilela
authors.initials: Md
authors.lastname: Goulart
mesh_terms: D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008336:Mandibular Diseases / Q000235:genetics; D008439:Maxillary Diseases / Q000235:genetics; D010022:Osteopetrosis / Q000235:genetics*; D011693:Purpura / Q000235:genetics