An Analysis From a Tertiary Pediatric Hospital: Does Physical Activity Play a Role in the Management of Children and Young Adults With Osteogenesis Imperfecta?

INTRODUCTION: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by reduced bone density and increased proneness to fractures. It manifests across a varied clinical spectrum of expressions in children and young adults. It is crucial for children with OI to have a multidisciplinary follow-up, including orthopedics, pediatrics, and physical medicine and rehabilitation. Although exercise may have no effect on the disease itself, it might improve the autonomy, self-esteem, and fitness of these children.  Methods: Retrospective cohort analysis of children and young adults aged three or more years old followed-up in a Level III Pediatric Hospital between 1995 and 2020. Demographic and clinical data were obtained from the hospital records and from the caregivers via phone calls. To our knowledge, this is the first national case series published assessing exercise habits in children with this condition. RESULTS: Among the 21 patients studied, the median age was 14 years, with no gender predominance. Eighteen (86%) practiced regular physical activity, while the remaining three (14%), all of whom were type III OI, were totally dependent. Of the aforementioned 18 children, 12 (67%) considered practicing the same level of physical activity compared to their healthy peers, although most of them needed adaptations. The most reported extracurricular activity was swimming, in 50% of the cases. About 39% engaged in physical activity two times or less per week, and 89% practiced for one hour or less per session. DISCUSSION: Over the years, it has become clear that physical activity is an important part of OI management. While awareness of the importance of exercise already exists, proper planning, follow-up, and monitoring are essential.

Acute Calculous Cholecystitis Presenting as an Acute Abdomen in a Five-Month-Old Child.

Acute cholecystitis is an exceedingly rare condition in young children; nevertheless, it should be considered while investigating an acute abdomen. We report a case of a five-month-old male who presented to the pediatric emergency department with inconsolable crying, decreased oral intake, vomiting, diarrhea, and a tender right upper quadrant of the abdomen. Laboratory studies revealed elevated gamma-glutamyl transferase and alkaline phosphatase and the abdominal ultrasound was suggestive of acute calculous cholecystitis. The patient was treated with intravenous hydration and antimicrobial therapy, avoiding the need for emergent cholecystectomy. A calcium bilirubinate calculus was observed in the feces but no etiology was found after extensive investigation. We aim to raise awareness of this diagnosis and the need for prompt initiation of therapy to avoid complications.