Open Access Open Access  Restricted Access Subscription or Fee Access

Osteogenesis Imperfecta – A Case Series and Review of Recent Advances in Management

E O Ogundare, A A Akintayo, O S Olatunya, I O Oluwayemi, S O Popoola, A S Atiba

Abstract


Osteogenesis Imperfecta (OI) is an uncommon congenital abnormality of the connective tissues in which diagnosis and management pose significant challenges especially in Low and Middle-Income Countries. The objective of this report is to draw attention to this uncommon congenital anomaly.  Two cases of OI were seen at birth and managed in Ekiti State University Teaching Hospital, Ado-Ekiti, Nigeria. One of the babies died shortly after birth while the other baby was managed and discharged home. The discharged baby was on follow-up care in the clinic until the parents defaulted from further care. She eventually died at home after series of hospitalisations for recurrent respiratory tract infections. In conclusion, a high index of suspicion is required during prenatal care visit. When detected at birth, parents are to be educated on the multidisciplinary approach to management, challenges and possible outcome as there is yet no cure for this condition. 


Keywords


Osteogenesis Imperfecta; Prenatal Diagnosis; Multiple fractures; Skeletal diseases.

Full Text:

PDF

References


Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives in Osteogenesis Imperfecta. Nat Rev Endocrinol 2011; 7: 540–557.

Akiode O, Ogunfowora OB, Shonubi A, Bajomo AA, Musa AA, Sotimehin SA. Osteogenesis Imperfecta Congenita in a Nigerian baby. SICOT Online Report E049. 2003.

Marini Joan C. Osteogenesis Imperfecta. In: Behrman RE, Kliegman RM, Stanton BF, Schor NF, St Geme III JW. (Eds) Nelson Textbook of Paediatrics. 19th Edition. Philadelphia, USA: Elsevier Saunders; 2011: 2437-2440.

Viljoen D, Beighton P. Osteogenesis imperfecta Type III: an ancient mutation in Africa? Am J Med Genet 1987; 27: 907-912.

Beighton P, Spranger J, Versveld G. Skeletal complications in Osteogenesis Imperfecta. A review of 153 South African patients. S Afr Med J 1983; 64: 565-568.

Astley R. Metaphyseal fractures in Osteogenesis Imperfecta. Br J Radiol 1979; 52: 441-443.

Akinola R, Disu E, Adewole O. Osteogenesis Imperfecta: A Report of Two Cases. The Intern J Pediatr Neonatol 2008; 8(2): DOI: 10.5580/cd.

Sillence DO, Rimoin DL. Classification of Osteogenesis Imperfecta. Lancet 1978; 1: 1041–1042.

Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD et al. A Founder Mutation in LEPRE1 Carried by 1.5% of West Africans and 0.4% of African Americans Causes Lethal Recessive Osteogenesis Imperfecta. Genet Med 2012; 14(5): 543–551.

Bachrach LK, Ward LM. Clinical review 1: Bisphosphonate use in childhood osteoporosis. J Clin Endocrinol Metab 2009; 94: 400–409.

Bargman R, Huang A, Boskey AL, Raggio C, Pleshko N. RANKL inhibition improves bone properties in a mouse model of Osteogenesis imperfecta. Connect Tissue Res 2010; 51: 123-131.

Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C et al. Evaluation of teriparatide treatment in adults with Osteogenesis Imperfecta. J Clin Invest 2014; 124(2): 491-498.

Antoniazzi F, Bertoldo F, Mottes M, Valli M, Sirpresi S, Zamboni G et al. Growth hormone treatment in Osteogenesis Imperfecta with quantitative defect of Type I collagen synthesis. J Pediatr 1996; 129: 432–439.

Antoniazzi F, Monti E, Venturi G, Franceschi R, Doro F, Gatti D et al. Growth hormone in combination with bisphosphonate treatment in Osteogenesis imperfecta. Eur J Endocrinol 2010; 163: 479-487.

Mehrotra M, Rosol M, Ogawa M, Larue AC. Amelioration of a mouse model of Osteogenesis Imperfecta with hematopoietic stem cell transplantation: micro-computed tomography studies. Exp Hematol 2010; 38: 593–602.

Guillot PV, Abass O, Bassett JHD, Shefelbine SJ, Bou-Gharios G, Chan J et al. Intrauterine transplantation of human fetal mesenchymal stem cells from first trimester blood repairs bone and reduces fractures in Osteogenesis Imperfecta mice. Blood 2008; 111: 1717-1725.

Panaroni C, Giola R, Lupi A, Besio R, Goldstein SA, Kreider J et al. In-utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant Osteogenesis Imperfecta. Blood 2009; 114(2): 459–468.

Millington-Ward S, McMahon HP, Farrar GJ. Emerging therapeutic approaches for Osteogenesis Imperfecta. Trends Mol Med 2005; 11: 299–305.

Sloan LA, Fillmore MC, Churcher I. Small-molecule modulation of cellular chaperones to treat protein misfolding disorders. Curr Opin Drug Discov Devel 2009; 12: 666–681.

Luhmann SJ, Sheridan JJ, Capelli AM, Schoenecker PL. Management of lower-extremity deformities in Osteogenesis Imperfecta with extensible intramedullary rod technique: a 20-year experience. J Pediatr Orthop 1998; 18: 88–94.


Refbacks

  • There are currently no refbacks.


Copyright (c) 2016 Annals of Health Research



A publication of the Medical and Dental Consultants Association of Nigeria, Olabisi Onabanjo University Teaching Hospital, (OOUTH) Sagamu Branch, Nigeria