Malignant infantile osteopetrosis: Case report of a 5-month-old boy

Malignant infantile osteopetrosis is a rare congenital disease characterized by a dysfunction of osteoclasts followed by an abnormal bone densification. We report the case of a 5-month-old infant in whom this disease was suspected because of the clinical (hepatosplenomegaly, gingival hypertrophy), h...

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Published inArchives de pédiatrie : organe officiel de la Société française de pédiatrie Vol. 23; no. 4; pp. 389 - 393
Main Authors Ledemazel, J, Plantaz, D, Pagnier, A, Girard, P, Lasfargue, M, Hullo, E, Dietrich, K, Collet, C, Moshous, D
Format Journal Article
LanguageFrench
Published France 01.04.2016
Subjects
Humans
Infant
Male
Mutation
Osteopetrosis - diagnosis
Osteopetrosis - genetics
Phenotype
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Summary:Malignant infantile osteopetrosis is a rare congenital disease characterized by a dysfunction of osteoclasts followed by an abnormal bone densification. We report the case of a 5-month-old infant in whom this disease was suspected because of the clinical (hepatosplenomegaly, gingival hypertrophy), hematological (pancytopenia and hypocalcemia), and radiological criteria (abnormal bone density, periosteal reaction). The genetic investigation confirmed the diagnosis. Compound heterozygous mutations in the CLCN7 gene were identified, including an as yet undescribed mutation. The second mutation had already been described as being responsible for severe and irreversible neurological damage in patients with osteopetrosis. Since this patient presented severely delayed development, he was not eligible for bone marrow transplantation.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:1769-664X
DOI:10.1016/j.arcped.2015.12.012