Juvenile Paget Disease

Juvenile Paget disease (see below for synonyms) is a rare metabolic bone disease that presents during the first 2 years of life with generalized skeletal deformities. It is one of the hyperphosphatasia syndromes, with increased serum alkaline phosphatase and mutations of the osteoprotegerin gene.

Major diagnostic criteria include: short stature, large skull, demineralization, expansion of tubular bones, and elevated serum alkaline phosphatase levels.

Radiographs reveal generalized demineralization, expansion of osteoporotic long bones with coarse trabeculation, short tubular bones, and widened skull bones. In the case shown above, there is bowing of femora with severe demineralization and loss of normal trabeculation. There is also marked cortical thickening. Radiographs of the hands and feet reveal widened phalanges with demineralization and marked cortical thickening. MRI reveals thickening of the diploic space with an enlarged clivus.

Juvenile Paget disease is also known as osteoectasia with hyperphosphatasia, fragile bones and macrocranium, hyperostosis corticalis deformans juvenile, chronic idiopathic hyperphosphatasia, chronic progressive osteopathy with hyperphosphatasia, osteochalasia desmalis familiaris, familial osteoectasia, hereditary hyperphosphatasia, and congenital hyperphosphatasia.

References

• Tüysüz B, Mercimek S, Ungür S, Deniz M. Calcitonin treatment in osteoectasia with hyperphosphatasia (juvenile Paget's disease): radiographic changes after treatment. Pediatr Radiol. 1999 Nov;29(11):838-41.
• Woodhouse NJ, Fisher MT, Sigurdsson G, Joplin GF, MacIntyre I. Paget's disease in a 5-year-old: acute response to human calcitonin. Br Med J. 1972 Nov 4;4(5835):267-9.