NR 507 Week 6 TD and Quiz

PART 1: Case Study Analysis

You have been contacted by an attorney representing a client who has been charged with child abuse, facing the loss of her child and 15 years in prison. The case involves a 4-year-old child who presented to the ER with a broken arm and leg, along with multiple previous fractures. Upon examination, you note the presence of blue sclera, a sunken chest wall, severe scoliosis, a triangular face, and a prominent forehead. Previous X-rays confirm multiple fractures. The pattern of findings suggests a genetic disorder.

1. What is the most likely genetic disease that this presents and why?

• Answer: The most likely genetic disease presented in this case is Osteogenesis Imperfecta (OI). OI is a genetic disorder characterized by bones that break easily, often with little or no apparent cause. The key features that point to this diagnosis include the presence of multiple fractures, blue sclera, a sunken chest wall, severe scoliosis, and distinctive facial features like a triangular face and prominent forehead. These symptoms are characteristic of OI, particularly Type I and Type III, which are associated with mild to moderate bone fragility and the presence of blue sclera.

2. What is the molecular basis of this disease?

• Answer: The molecular basis of Osteogenesis Imperfecta (OI) typically involves mutations in the COL1A1 and COL1A2 genes, which code for the pro-alpha1 and pro-alpha2 chains of type I collagen, respectively. Type I collagen is a crucial component of bone, skin, and connective tissue. Mutations in these genes can lead to defective collagen formation, resulting in weak or improperly formed bones that are prone to fractures. The defective collagen may also affect other tissues, leading to the additional symptoms observed in this child, such as blue sclera and abnormal bone structure.

3. Before calling the police, what should the initial clinician have done?

• Answer: Before calling the police, the initial clinician should have conducted a thorough differential diagnosis to rule out medical conditions that could explain the child’s symptoms, including genetic disorders like Osteogenesis Imperfecta. This would involve taking a detailed medical and family history, conducting a physical examination, and ordering appropriate diagnostic tests, such as genetic testing and bone density scans. The clinician should have considered the possibility of a genetic condition causing the fractures and sought input from specialists, such as a pediatric geneticist or an orthopedic surgeon, before assuming that the fractures were a result of abuse. This careful approach could prevent a misdiagnosis and the subsequent legal and emotional consequences for the family.