Osteogenesis imperfecta and acute lymphoid leukemia: case report

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Gabriel David Tarud
Ornella Ruiz


Osteogenesis imperfecta, acute lymphoblastic leukemia, genetic abnormality


Background: The combination of osteogenesis imperfecta (OI) and acute lymphoblastic leukemia (ALL) is uncommon, as evidenced in the world literature.

Case report: We present the case of a pre - school patient with a family history and clinical and radiological characteristics compatible with OI, who is enrolled in ALL, receiving chemotherapy according to BFM 2009 protocol. In our case, from a clinical perspective, this underlying condition did not affect their ability to tolerate and respond to chemotherapy.

Discussion: It is well described that genetic and chromosomal abnormalities increase the risk of leukemia, however the relationship between osteogenesis imperfecta and acute lymphoblastic leukemia is rare. In the world literature, there are few cases mentioning this association. It is important to continue observing the occurrence of later cases, which allow describing if there is a direct relationship between these two entities.

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Choi SW, Wechsler DS. Burkitt lymphoma in a child with osteogenesis imperfecta. Pediatric blood & cancer. 2005 Nov;45(6):863-864. PubMed PMID:15926161. Epub 2005/06/01. eng.

Forlino A, Marini JC. Osteogenesis imperfecta. Lancet (London, England). 2016; Apr 16;387(10028):1657-1671. PubMed PMID: 26542481. Epub 2015/11/07. eng.

Gilchrist GS, Shore NA. Familial leukemia and osteogenesis imperfecta. The Journal of pediatrics. 1967 Jul;71(1):115-118. PubMed PMID: 5294018. Epub 1967/07/01. eng.

Lanzkowsky P. Manual of Pediatric hematology and oncology. Fifth edition. ed.press Ea, editor 2011.

Marini JC, Blissett AR. New genes in bone development: what's new in osteogenesis imperfecta. The Journal of clinical endocrinology and metabolism. 2013;98(8):3095-3103. PubMed PMID: 23771926. Pubmed Central PMCID:PMC3733862. Epub 2013/06/19. eng

Marini JC FA, Cabral WA, et al. . Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28:209-221.

Maiya S GR, Ramaswamy R, et al. Osteosarcoma occurring in osteogenesis imperfecta tarda. Int Orthop. 2002;26:126-128.

MP Gutiérrez-Díez MMG, L Prieto Tato, JI Parra García, AM Bueno Sánchez. Madrid. UOIHUdG. Osteogénesis Imperfecta: Nuevas Perspectivas. Rev Esp Endocrinol Pediatr. 2013;4 (Suppl).

Nishi M, Miyake H, Takeda T, Hatae Y. Congenital malformations and childhood cancer. Medical and pediatric oncology. 2000; 34(4):250-254.PubMed PMID: 10742060. Epub 2000/03/31. eng.