Keywords
How to Cite
Abstract
Osteopetrosis refers to a heterogeneous group of rare hereditary diseases, recognized as affecting bone structure.
Autosomal recessive (ARO), autosomal dominant (ADO), or X-linked inheritance determine extreme clinical variability.
The pathogenesis of ARO or infantile malignant form is centered in the osteoclast. The incidence of this variety in the population is estimated to be 1 in 250,000 births.
Patients characteristically have increased bone density on imaging.
The age of onset and the phenotype make up a wide spectrum of clinical manifestations, from an asymptomatic radiological finding in adulthood (ADO) to the severity of the neonatal onset.
A characteristic early onset of hypocalcemic seizures with increased PTH, growth retardation, fractures, compressive obliterative neuropathy, respiratory compromise, blindness, and progressive pancytopenia are characteristic of classic ARO.
The clinical and hematologic presentation of ARO may be initially indistinguishable from juvenile myelomonocytic leukemia.
Bone marrow failure caused by bone space reduction leads to extramedullary hematopoiesis, hepatosplenomegaly and recurrent infections.
The only curative treatment available for classic ARO is hematopoietic stem cell transplantation, indicated according to the genetic study, bone biopsy and the clinical evolution of the patient.
References
2. Schulz AS, Moshous D, Steward CG. Osteopetrosis. Consensus Guidelines of the ESID and the EBMT Working Party Inborn Errors. Versión 3 https://esid.org/layout/set/print/content/download/14303/398344/file/00_OP_Guidelines_V3.pdf
3. Mazzolari E. Forino C Razza A y col. A single-center experience in 20 patients with Infantile malignant osteopetrosis. Am J Hematol. 2009;84:473-479.
4. Mortier G, Cohn D, Cormier-Daire V y col. Nosology and classification of genetic skeletal disorders:2019 revision. Am J Med Genet. 2019;1-27.
5. Steward C. Hematopoietic Stem Cell Transplantation for Osteopetrosis. Pediatr Clin N Am. 2010;57:171- 180.
6. Strauss A, Furlan I, Steinmann S y col. Unmistakable Morphology? Infantile Malignant Osteopetrosis Resembling Juvenile Myelomonocytic Leukemia in Infants. J Pediatr. 2015 Aug;167(2):486-8.
7. Wilson CJ, Vellodi A. Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child. 2000; 83:449-452.
8. Driessen GJA, Gerritsen EJA, Fischer A. Osteopetrosis Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplantation. 2003;32:657-663.
9. Slonim LB, Glasser C. Infantile Osteopetrosis. J Pediatr Hematol Oncol. 2018;40(3):225-226.
10. Steward C. Review Neurological aspects of osteopetrosis. Neuropathology and Applied Neurobiology, 2003;29:87-97.
All material published in the journal HEMATOLOGÍA (electronic and print version) is transferred to the Argentinean Society of Hematology. In accordance with the copyright Act (Act 11 723), a copyright transfer form will be sent to the authors of approved works, which has to be signed by all the authors before its publication. Authors should keep a copy of the original since the journal is not responsible for damages or losses of the material that was submitted. Authors should send an electronic version to the email: revista@sah.org.ar