Malignant infantile osteopetrosis is a rare osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique radiographic appearance of generalized hyperostosis (excessive growth of bone).
The generalized increase in bone density has a special predilection to involve the medullary portion with relative sparing of the cortices.[1] Obliteration of bone marrow spaces and subsequent depression of the cellular function can result in serious hematologic complications. Optic atrophy and cranial nerve damage secondary to bony expansion can result in marked morbidity. The prognosis is extremely poor in untreated cases.[2] Plain radiography provides the key information to the diagnosis. Clinical and radiologic correlations are also fundamental to the diagnostic process, with additional gene testing being confirmatory.
^EL-Sobky TA, Elsobky E, Sadek I, Elsayed SM, Khattab MF (2016). "A case of infantile osteopetrosis: The radioclinical features with literature update'. Bone Rep. 4:11-16. doi:10.1016/j.bonr.2015.11.002. PMC 4926827. PMID 28326337
^Orchard PJ, Fasth AL, Le Rademacher J, et al (2015). "Hematopoietic stem cell transplantation for infantile osteopetrosis". Blood. 126:270–6. DOI: 10.1182/blood-2015-01-625541. PMC 4497967 PMID 26012570
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Hypocalcemia Autosomal recessive osteopetrosis (ARO), also known as malignantinfantileosteopetrosis or infantilemalignantosteopetrosis (IMO), is a rare type...
Malignantinfantileosteopetrosis is a rare osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique...
autoimmune diseases and hereditary skeletal dysplasias; notably malignantinfantileosteopetrosis and mucopolysaccharidosis. Stem cells can be used to regenerate...
autoimmune diseases and hereditary skeletal dysplasias, notably malignantinfantileosteopetrosis and mucopolysaccharidosis. Indications for stem-cell transplantation...
transplantation can be lifesaving for some disorders, such as with malignantinfantileosteopetrosis. Even with treatments such as enzyme replacement therapy and...
Defects in this gene may cause the autosomal recessive, infantilemalignant form of osteopetrosis. This is also known as autosomal recessive Albers-Schonberg...
acidification of the bone-osteoclast interface, resulting in infantilemalignantosteopetrosis. T cell Co-stimulation MHC class II CTLA-4 apoptosis GRCh38:...
resulting from their mutation. Thomsen's disease, Dent's disease, infantilemalignantosteopetrosis, and Bartter's syndrome are all genetic disorders due to such...
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