Presentation
History of Mulibrey nanism and Wilms tumor. A lesion in the right tibia for further characterization.
Patient Data
A lucent lesion is demonstrated in the proximal tibial diaphysis with the following features:
measures 14 x 16 x 40 mm
arising from the anteromedial cortex and expanding into the medullary cavity
a narrow zone of transition
no periosteal reaction
ground-glass density with no osteoid or chondroid matrix
no pathological fracture
lucent, well-defined, cortically-based lesion within the anterolateral proximal tibial cortex
no definite chondroid or osteoid matrix
no periosteal reaction or soft tissue mass
The PET CT scan demonstrates focal intense tracer uptake in the right proximal tibia, at the site of the known bone lesion.
Case Discussion
The solitary osseous lesion in the proximal right tibia was favored to represent fibrous cortical dysplasia. The imaging features presented here are typical and may be referred to in the Radiopaedia article.
This child has a history of Mulibrey nanism, an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function.
In infancy, feeding difficulties and respiratory tract infections are common problems. Congestive heart failure and pericardial constriction may be diagnosed during infancy.
Characteristic craniofacial features of scaphocephaly, facial triangularity, high and broad forehead, and low nasal bridge are seen in over 90% of patients. In addition, gracile and thin extremities are seen.
Other findings included a peculiar high-pitched voice (96%), yellowish dots in ocular fundi (79%), cutaneous nevi flammei (65%), hepatomegaly (45%), and fibrous dysplasia of long bones (25%).
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