Clinical and imaging features of malignant infantile osteopetrosis.
Turk J Pediatr
; 59(4): 452-457, 2017.
Article
em En
| MEDLINE
| ID: mdl-29624226
ABSTRACT
Tfifha M, Gaha M, Gamaoun W, Chemli J, Mabrouk S, Hassayoun S, Zouari N, Jemni H, Abroug S. Clinical and imaging features of malignant infantile osteopetrosis. Turk J Pediatr 2017; 59 452-457. Human osteopetrosis is a rare genetic disorder caused by osteoclast failure. It encompasses a group of highly heterogeneous forms, ranged widely in severity. Patients with autosomal recessive osteopetrosis are the most severely affected osteopetrotic patients. Here we describe Tunisian children with severe phenotype. They are native from the same geographic region, born to consanguineous parents. Clinical features were cranio-facial dysmorphy, macrocephaly, hepatosplenomegaly, severe anemia and thrombocytopenia with precocious onset of neuronopathic complications, blindness and deafness. Retinal atrophy, reported in a minority of forms is highlighted. Skeletal radiographs revealed generalized increase in bone density and abnormal metaphyseal remodeling, and superimposed rickets resulting from the defect in osteoclasts to provide a normal Ca/P balance. We report an exceptional association with congenital hypothyroidism. Multi-organ failure due to sepsis is one the most severe complications observed. The issue was fatal without hematopoietic stem cell transplantation.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteopetrose
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Anormalidades Múltiplas
Tipo de estudo:
Etiology_studies
Limite:
Child, preschool
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Tunísia
País de publicação:
TR
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TURKEY
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TURQUIA