Premium
Familial malignant osteopetrosis in children: a case report
Author(s) -
Gomes Mônica Fernandes,
Coelho Rangel Daniela,
Morais Starling Cláudia Cristina,
Graças Vilela Goulart Maria
Publication year - 2006
Publication title -
special care in dentistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.328
H-Index - 41
eISSN - 1754-4505
pISSN - 0275-1879
DOI - 10.1111/j.1754-4505.2006.tb01432.x
Subject(s) - medicine , osteopetrosis , pancytopenia , pathological , dyscrasia , tooth mobility , bone marrow , pathology , dentistry , plasma cell
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.