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Published on: June 13, 2018
[Malignant infantile osteopetrosis: Case report of a 5-month-old boy]
J Ledemazel1, D Plantaz1, A Pagnier1
1Clinique universitaire de pédiatrie, HCE, CHU de Grenoble, CS10217, 38430 Grenoble cedex 09, France.
Insights
Malignant infantile osteopetrosis, a rare genetic bone disease, was diagnosed in an infant with characteristic clinical and radiological signs. Genetic analysis revealed compound heterozygous mutations in the CLCN7 gene, including a novel mutation.
Area of Science:
- Genetics
- Pediatrics
- Hematology
Background:
- Malignant infantile osteopetrosis is a rare congenital disorder.
- It results from osteoclast dysfunction, leading to abnormal bone densification.
- Clinical manifestations include hepatosplenomegaly, gingival hypertrophy, pancytopenia, and hypocalcemia.
Abstract:
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.
