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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Malignant infantile osteopetrosis: Case report with review of literature
Pan African Medical Journal, Volume 17, Article 63, Year 2014
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Description
Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity.We report a thirteen month-old male patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus. His medical history revealed non consanguineous parents and one brother's death at the same age of unknown etiology (similar symptoms). Systemic examination showed hepatosplenomegaly, growth failure, developmental milestones delay, and rickets features. Ophthalmic exam yielded bilateral optic atrophy. Skeleton radiographs detected generalized dense bone and rickets. Cerebral CT scan revealed hydrocephalus. Histological examination showed hypoplastic bone marrow and extra-medullary hematopoeisis. Diagnosis was confirmed by genetic testing that showed two heterozygote mutations within the TCIRG1 gene. The patient received supportive treatment. He died from an acute respiratory distress.MIOP should be kept in mind as a rare cause of hepatosplenomegaly. Early diagnosis and timely Hematopoietic stem cell transplantation are the only curative approach for an otherwise fatal disease. © Laila Essabar et al.
Authors & Co-Authors
Essabar, Laila
Morocco, Agdal Rabat
Hôpital D'enfants
Meskini, Toufik
Morocco, Agdal Rabat
Hôpital D'enfants
Ettair, Said
Morocco, Agdal Rabat
Hôpital D'enfants
Erreimi, Naima
Morocco, Agdal Rabat
Hôpital D'enfants
Mouane, Nezha
Morocco, Agdal Rabat
Hôpital D'enfants
Statistics
Citations: 23
Authors: 5
Affiliations: 1
Identifiers
Doi:
10.11604/pamj.2014.17.63.3759
ISSN:
19378688
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Participants Gender
Male