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Familial malignant osteopetrosis in children: a case report

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Familial malignant osteopetrosis in children: a case report

Auteurs : Mônica Fernandes Gomes [Brésil] ; Daniela Coelho Rangel [Brésil] ; Cláudia Cristina Morais Starling [Brésil] ; Maria Graças Vilela Goulart [Brésil]

Source :

Special Care in Dentistry [ 0275-1879 ] ; 2006-05.

RBID : ISTEX:F0AE3A3E440B995760531EEB18448E4A66B7BFD2

Descripteurs français

Wicri :
- topic : Transfusion sanguine.

English descriptors

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.

Url:

https://api.istex.fr/document/F0AE3A3E440B995760531EEB18448E4A66B7BFD2/fulltext/pdf

DOI: 10.1111/j.1754-4505.2006.tb01432.x

Affiliations:

Brésil

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Le document en format XML

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<front><div type="abstract" xml:lang="en">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.</div>
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Familial malignant osteopetrosis in children: a case report

Familial malignant osteopetrosis in children: a case report

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri