Hosting 718 files, 2916 images, and 4 contributors.

 
Random Case

Sinding-Larsen-Johansson Disease
Heather Borders, MD
over 7 years ago
Enter A Workflow
Standard2   Academic2

Please choose a workflow. A standard workflow allows you to browse the repository with full case detail; the academic workflow allows you to browse the repository with limited case detail revealed. Double click on the images to launch image viewer.

ARSt Case Repository

Neurofibromatosis Type I - Bone Dysplasia

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Neoplasia Benign
Created: over 6 years ago
Updated: over 6 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
Adobe32 PDF Imagej32 ImageJA

History

5 month old female with numerous cafe-au-lait spots.


Case Images


Diagnosis

Neurofibromatosis Type I – Bone Dysplasia

Findings

CR – Tibial bowing and undulation with sclerosis and narrowing of the medullary canal.

Discussion

Tibial bowing occurs most often in neurofibromatosis but can also be seen in other fibrous diseases (osteofibrous dysplasia, familial expansile osteolysis) osteogenesis imperfecta, rickets (hypophosphatemic and nutritional), and bone dysplasias (campomelic and thanatophoric). Tibial bowing in neurofibromatosis is prone to fracture and pseudoarthrosis. Approximately 11% of patients with neurofibromatosis have pseudoarthrosis of the tibia.

Fracture and pseudoarthrosis occur in about half of patients with neurofibromatosis and osseous dysplasia of the tibia prior to 1 year of age. Regional sclerosis, narrowing of the medullary canal, cystic change and bowing/angulation are indicators of impending fracture and pseudoarthrosis.

The cause of fracture and pseudoarthrosis is not known with certainty but may be related to hamartomatous proliferation of fibrous tissue. Neurofibromas are not present in this region. Treatment of fractures and pseudoarthrosis of the tibia in neurofibromatosis is difficult with no clear advantage to any method.

Reference

Ozonoff M. Pediatric Orthopedic Radiology, 2nd Ed. WB Saunders Co (1992).



Corporate Office: 616.363.7272, 3264 North Evergreen Drive, Grand Rapids, MI 49525

Spectrum Health Helen Devos Childrens Hospital GE HealthCare