ROSH Gastrointestinal Practice Exam

A four-year-old boy with poor growth shows signs of osteopenic epiphyseal centers. What is the most likely diagnosis?

1. Blount disease

2. Hypophosphatasia

3. Rickets

4. Skeletal dysplasia

The correct answer is: Rickets

The situation described involves a four-year-old boy with poor growth and osteopenic epiphyseal centers, which indicates a potential issue with bone mineralization and growth plate development. In this context, rickets is the most likely diagnosis. Rickets is a condition that results from a deficiency of vitamin D, calcium, or phosphate, leading to impaired mineralization of the growing bones. Characteristically, it affects the epiphyseal areas, where bone growth occurs, and it often presents with clinical signs such as poor growth, skeletal deformities, and changes in the bone structure, including osteopenia. The presence of osteopenic epiphyseal centers specifically aligns with the effects of rickets, as these regions of bone are particularly susceptible to the consequences of mineral deficiency. Additionally, although hypophosphatasia, skeletal dysplasia, and Blount disease can also lead to growth abnormalities, they do not specifically correlate with the classic signs of osteopenic epiphyseal centers and poor growth due to vitamin D deficiency. Hypophosphatasia leads to issues primarily related to the enzyme alkaline phosphatase, affecting bone mineralization but usually presents earlier in life. Skeletal dysplasia encompasses a broad range of genetic conditions affecting bone development, and Bl