Malignant infantile XXXX : case report with review of literature.

@entity1 @entity1952 @entity851 @entity1276 @entity649 @entity828 @entity74 @entity25015 @entity2525
Malignant Infantile @entity2525 (MIOP) is a rare @entity74 due to osteoclast abnormal activity. We report a thirteen month-old male @entity1 , diagnosed as MIOP while investigating the cause of @entity828 associated with @entity1276 . His medical history revealed non consanguineous parents and one brother's death at the same age of unknown etiology (similar symptoms). Systemic examination showed @entity828 , @entity851 , developmental milestones delay, and rickets features. Ophthalmic exam yielded bilateral @entity1952 . Skeleton radiographs detected generalized dense bone and rickets. Cerebral CT scan revealed @entity1276 . Histological examination showed hypoplastic bone marrow and extra-medullary hematopoeisis. Diagnosis was confirmed by genetic testing that showed two heterozygote mutations within the @entity25015 gene. The @entity1 received supportive treatment. He died from an acute @entity649 . MIOP should be kept in mind as a rare cause of @entity828 . Early diagnosis and timely Hematopoietic stem cell transplantation are the only curative approach for an otherwise fatal disease.
