Presentation
Discussion Malignant infantile osteopetrosis (MIO) Classical clinical presentation of patients is described in the present case: generalized osteosclerosis, cytopenias, lymphadenopathy, or hepatosplenomegaly. [scielo.org.mx]
Immune System
- Splenomegaly
On examination, the infant was found with hypotonia, abnormal eye movements, depressed nasal bridge, and hepatomegaly without splenomegaly. An abdominal ultrasound measured a normal spleen and an enlarged liver with 345 cc estimated volume. [scielo.org.mx]
Workup
Diagnostic workup required anesthetic procedures for biopsies, bone marrow aspirations, and catheter placements. [scielo.org.mx]
Treatment
Treatment Hematopoietic stem cell transplantation represents the definitive treatment of autosomal recessive MIO. [scielo.org.mx]
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. J Med Genet. 2006 Apr;43(4):315-25. Epub 2005 Aug 23. [medlineplus.gov]
Etiology
To date, seven genes at least have independently been linked in the etiology of autosomal recessive osteopetrosis, among which TCIRG1, CLCN7, and OSTM1 have been reported as the most frequently affected. [scielo.org.mx]
Prevention
Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. [medlineplus.gov]