ICCBH2013 Poster Presentations (1) (201 abstracts)
Bone disease in children with geroderma osteodysplasticum: a 25-year experience from a single tertiary centre
J S Gopal-Kothandapani 1 , R Padidela 1 , J Clayton-Smith 2 , K E Chandler 2 , J E Adams 3 , A J Freemont 4 & M Z Mughal 1
1Royal Manchester Children’s Hospital, Manchester, UK; 2School of Biomedicine, Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK; 3Department of Radiology, Manchester Academic Health Science Centre (MAHSC), The Royal Infirmary and University of Manchester, Manchester, UK; 4Regenerative Medicine, Developmental Biomedicine Research Group, School of Medicine, Stopford Building, University of Manchester, Manchester, UK.
Geroderma osteodysplasticum (GO) is a rare autosomal recessive connective tissue disorder characterised by progeria like facies, wrinkled lax skin, joint hypermobility, congenital dislocation of hips and propensity to fragility fractures. In the past 25 years, five patients (three females and two males) diagnosed with GO were referred to our Paediatric metabolic bone service for assessment and management of secondary bone problems. All five children were born to consanguineous parents of Pakistani origin.
Four out of five patients had significant bone problems at presentation or developed them subsequently. Two patients had congenital dislocation of hips and two had talipes equinovarus. Four patients with radiologically apparent osteopaenia developed vertebral wedge fractures. Three children suffered non-vertebral fractures, which included: the femur, the tibia, the clavicle, a metatarsal bone and a middle phalanx.
| Age (years) | Lumbar spine bone mineral apparent density Z-score (g/ml3) | Lumbar spine volumetric trabecular BMD Z-score (mg/ml3) | Distal radial total BMD Z-score (mg/ml3) | Distal radial trabecular BMD Z-score (mg/ml3) |
| 5 | 0.169 | −1.62 | 1.3 | 0.29 |
| 11 | −3.736 | −5.16 | −0.03 | −2.03 |
| 5.4 | 0.498 | −1.98 | −2.35 | −1.6 |
Trans-iliac bone biopsies in two childrens showed severe cortical and trabecular osteopaenia. Data on bone densitometry, which was performed in three childrens, is shown in the table below. Cyclical intravenous Pamidronate therapy resulted in reduced number of long-bone fractures and remodelling of vertebral fractures. In one patient who had serial bone densitometry performed, intravenous Pamidronate therapy resulted in an improvement in bone mineral density (BMD) values at axial and appedicular skeletal sites.
In our experience, severity of bone disease in children with GO is variable. It is characterised by cortical and trabecular osteopenia and intravenous bisphosphonate therapy appears to improve bone mineral density and reduce the fracture risk.
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