The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 4
Clinical and imaging features of malignant infantile osteopetrosis
Miniar Tfifha 1 ,Mehdi Gaha 2 ,Wided Gamaoun 2 ,Jalel Chemli 1 ,Sameh Mabrouk 1 ,Saida Hassayoun 1 ,Noura Zouari 1 ,Hela Jemni 2 ,Saoussen Abroug 1
1 Department of Pediatrics, Sahloul University Hospital, Sousse, Tunisia
2 Radiology, Sahloul University Hospital, Sousse, Tunisia
DOI : 10.24953/turkjped.2017.04.012 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. Keywords : autosomal recessive osteopetrosis, infantile malignant osteopetrosis, hepatosplenomegaly, rickets

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