Familial malignant osteopetrosis in children: a case report |
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| Authors: | Mô nica Fernandes Gomes DDS,MD,PhD,Daniela Coelho Rangel,Clá udia Cristina Morais Starling MD, Maria Graç as Vilela Goulart MS,DDS |
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| Affiliation: | Professor, Department of Biosciences and Oral Diagnosis, Såo Josédos Campos Dental School, Såo Paulo State University —UNESP, and Chairman of Bioscience Center for Special Health Care Needs (CEBAPE) and Special Health Care Needs Association (ASPE), SaTo Josédos Campos, SaTo Paulo, Brazil;Graduate Student, SaTo Josédos Campos Dental School, SaTo Paulo State University —UNESP, SaTo Paulo, Brazil;Doctoral Student, C.P.O. Leopoldo Mandic-Orthodontics, Campinas, SaTo Paulo, Brazil;Associate Researcher, Bioscience Center for Special Health Care Needs-CEBAPE, SaTo Josédos Campos Dental School, SaTo Paulo State University —UNESP, SaTo Paulo, Brazil |
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| 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. |
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| Keywords: | malignant infantile osteopetrosis bone disease oral manifestation histological and radiological finding |
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