Osteogenesis Imperfecta
Instructions:
1) Descible patient history and symptoms
2) Describe patient population affected, frequency, etc
3) Description of modality used including view , positioning, techniques etc
4) Advantages and disadvantages over other modalities
5) Review of findings ( can include other supporting test results …lab, etc)
6) Diagnosis and discussion of pathology.
7) Treatment options
8) Prognosis
9) References
Solution.
Osteogenesis Imperfecta
Introduction
Osteogenesis imperfecta (OI) is a disorder of connective tissues that is genetically inherited and is characterized by excessive bone fragility (Nassar et al., 2016). To describe the severity of the disease, different types are classified as type I to type VIII. It is mainly caused by mutations of the collagen genes. This case study is about a male baby, who was given birth to by a woman aged 33 years at University of Nigeria Teaching Hospital, Enugu. His family had no history of OI but the baby was diagnosed with type II OI immediately he was born and was put under medication but he died after 7 days.
Patient History
The baby was unable to cry at birth and had several body deformities and an abnormal body posture. The mother of the baby sought antenatal care, and the pregnancy did not have any problem. Prenatal ultrasonography was conducted but no fractures were seen (Edelu,B. et al. 2014). The mother had spontaneous onset of labor that lasted 8 hours and had a vertex delivery. At 10 minutes, Apgar score was four. There was no family history of the disorder.
The baby had an abnormal posture, a frog-like position. Movements of his left thigh were abnormal, and he had a respiratory problem with blue coloration of the skin. His sclera was blue- grey, and he had a deformed jaw, as well as his palate was high arched. The baby’s musculoskeletal system was examined, and it was noted that he had deformity of the thoracic wall, osteopenia, micromelia and fingers fixed flexion deformity. He also had deformities in the arm, thigh, foot, and ankle (Edelu et al. 2014).
Populations affected
OI is rarely reported from Africa and from black people living in other continents. However, a few cases have been reported from South Africa, Burundi, and Nigeria.
Modality
Radiographic support shows the imaging characteristics of the disease. Prenatal ultrasonography in the second trimester of pregnancy is useful in diagnosis for pregnancies at risk as it shows fractures and poor calvaria ossification which are signs of type II OI (Nassar et al., 2016). Other modalities include Magnetic Resonance Imaging which is used to asses other related complications like basilar invagination. The multiple fractures in a person with OI can be confused with those that result from child battering, hypophosphatasia, or steroid-induced osteoporosis (Edelu et al. 2014). The disadvantage of radiology is that it is difficult to determine if the exact cause of the fractures is OI or other causes. Therefore, it demands that the radiologist have sufficient knowledge of the disease, its variability, and imaging appearance.
Review of findings
To confirm the findings, tests like analysis of blood deoxyribonucleic acid and examination of skin fibroblast culture by collagen analysis (Edelu,B. et al. 2014).
Diagnosis
The baby was diagnosed to have Osteogenesis Imperfecta type II with birth asphyxia. This diagnosis was reached because of the presence of the multiple fractures at birth, the blue-grey coloration of sclera, micromelia, and osteopenia (Edelu et al. 2014). It was concluded that it was caused by sporadic genetic mutations.
Treatment options
The baby was given supportive treatment. Intermittent suctioning was done along with oxygen intra-nasal administration. He was to receive surgical intervention but he died before it was performed (Edelu et al. 2014).
Prognosis
Osteroegenesis Imperfecta cannot be cured but can be managed through multidisciplinary management, which involves surgery, physiotherapy, and rehabilitation (Nassar et al., 2016). Surgery has been the main intervention but treatment with bisphosphonate has been discovered to prevent fractures and strengthen bone structure. Bone marrow transplant is also another treatment that has been said to improve bone mineral content, and reduce its rate of fracturing.
Conclusion
Type II Osteogenesis Imperfecta affects babies and is
said to be prenatal lethal. Very few cases have been reported from Africa but
more research should be done on this as it may be due to under reporting since
there are no facilities for detecting the disease. Radiography is the main
technique for diagnosing the disease. Surgey, clinical treatment with bisphosphonate,
and bone marrow transplant are the treatment options available.
References
Edelu, B., Ndu, I., Asinobi, I., Obu, H., & Adimora, G. (2014). Osteogenesis imperfecta: A case report and review of literature. Annals of Medical and Health Sciences Research, 4(7), 1–5.
Nassar, K., Janani, S., Rachidi, W., Mkinsi, O., Cherqaoui, A., & Aboumaarouf, M. (2016). Osteogenesis imperfecta: Clinical and laboratory aspects, about five cases. Bone Abstracts 5, p. 472