Searchable abstracts of presentations at key conferences on calcified tissues
Bone Abstracts (2019) 7 P224 | DOI: 10.1530/boneabs.7.P224

ICCBH2019 Poster Presentations (1) (226 abstracts)

A teenager with recurrent fractures and multiple bone lesions: a diagnostic challenge

Sumudu Nimali Seneviratne & Piumi Kuruppu


Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.


Background: Ollier disease is a rare sporadic disorder where enchondromas develop close to the growth plate cartilage. Prevalence is around 1 in 100 000. Multiple enchondromas usually develop in childhood. Persons with Ollier disease are prone to pathological fractures. The disease carries a high risk of skeletal, visceral and brain malignancy

Presenting problem: A 14-year-old boy presented with multiple fractures following trivial trauma. He first presented at 11 years with a fracture of his left tibia following a fall at home. At 14 year of age he fractured his left humerus while hanging on a wall with his hands. On examination, he was of average height and weight with no dysmorphic features. He had multiple swellings in fingers of both hands. He had white sclera. There was no family history of bone diseases.

Clinical management: Skeletal survey showed lucent lesions and fractures involving in both upper limbs, lower limbs and pelvis. Both proximal humeral epiphyses were poorly mineralized The appearance was suggestive of multiple enchondromas. Skull X-ray appeared normal. DXA scan showed low bone mineral density (lumbar spine z-score – 1.7, neck of femur z-score – 2.7).

Discussion: The clinicopathological features and pathogenesis of Ollier disease remain controversial. Further, therapeutic options for Ollier disease are limited. However, detecting Ollier disease as early as possible is important to prevent malformations and to monitor for neoplasm development including malignant progression of enchondromas to chondrosarcoma.

Disclosure: The authors declared no competing interests.

Volume 7

9th International Conference on Children's Bone Health

ICCBH 

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