Progressive diaphyseal dysplasia (MIM 131300), also known as
Camurati-Engelmann disease (CED), is a rare autosomal dominant craniotubular dysplasia caused by mutations in the
transforming growth factor beta1 (TGF-beta1) gene. Radiographs of the long bones of a 9-year-old boy presenting with waddling gait,
muscular weakness, underweight, and severe skeletal
pain showed symmetric diaphyseal cortical thickening pathognomonic for CED. The diagnosis was verified by detecting a mutation in exon 4 of the
TGF-beta1 gene. Full body bone
mineral densitometry studies performed before treatment with
prednisolone were indicative for
osteoporosis (Z-scores for the lumbar spine and femoral neck -2.3 and -3.2, respectively). A transiliac bone biopsy showed markedly reduced trabecular bone volume. Oral
prednisolone was initiated, and subsequently,
pamidronate infusions were commenced in an attempt to prevent progression of
osteoporosis. To our knowledge, this is the first time bone biopsy and bone
mineral densitometry studies have been performed and
bisphosphonate treatment evaluated in a child with CED.