E3363. Bones and Groans: Pediatric Metabolic Bone Disease
  1. Mostafa Alnoury; University of Pennsylvania
  2. Miraziz Ismoilov; University of Pennsylvania
  3. Hamza Alizai; Children Hospital of Philadelphia; University of Pennsylvania
Metabolic bone disease encompasses a wide array of conditions that impact the overall bone mass or structure due to external factors. These conditions have diverse causes, ranging from genetic disorders and nutritional deficiencies to acquired conditions. The imaging findings also exhibit considerable diversity, with the same disorder often showcasing a broad spectrum of skeletal observations. Our purpose is to go through various radiographic findings associated with numerous metabolic bone diseases such as osteoporosis, rickets and osteomalacia, hypophosphatasia, hyperparathyroidism, renal osteodystrophy, hypoparathyroidism, hypothyroidism, hyperthyroidism, acromegaly, and scurvy.

Educational Goals / Teaching Points
Identify prevalent pediatric metabolic bone diseases, such as rickets, hypophosphatasia, osteogenesis imperfecta, Ehlers-Danlos syndrome, and others. Diagnose and differentiate pediatric metabolic bone diseases using imaging findings, including alterations in bone density, architecture, and morphology. Describe the distinctive imaging findings associated with each metabolic bone disease on radiographs, CT scans, and MRI scans. Comprehend the application of various imaging modalities, including radiography, computed tomography (CT), magnetic resonance imaging (MRI), and bone scintigraphy, in assessing pediatric metabolic bone diseases.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
Inherited and acquired conditions that disrupt bone and mineral metabolism lead to impaired bone mineralization and compromised structural integrity of the skeleton. We will go through different pediatric metabolic bone diseases. Rickets is one of the most common conditions that is due to inadequate vitamin D in diet, absorption, or metabolism. Radiography demonstrates metaphyseal fraying, splaying and cupping. Osteopetrosis is a rare condition due to abnormal osteoclast. Sandwich vertebra is distinctive radiological sign that is characterized by endplate sclerosis with relative lucency centrally within the vertebral bodies. Osteogenesis imperfecta is caused by genetic disorders of collagen type I production, involving connective tissues and bones. Radiological findings include diffusely demineralized, gracile overtubulated bones. Scurvy manifests as a deficiency in vitamin C, an essential cofactor for the hydroxylation of numerous proteins, such as collagen. Radiological signs include Franklin line which is dense line of provisional calcification and Trümmerfeld zone which is a lucent metaphyseal band underlying Frankel line.

Pediatric metabolic bone diseases comprise diverse groups of disorders that impact the skeletal system. Timely diagnosis of such conditions holds paramount significance in preventing clinical repercussions like impaired linear bone growth and the development of bone deformities. Imaging plays a pivotal role in accurately diagnosing these diseases.