Dados do Trabalho

Título

Ollier's Disease with Sarcomatous Transformation

Descrição sucinta do(s) objetivo(s)

The aim of this presentation is to highlight the imaging findings using Positron Emission Tomography (PET-CT) and conventional radiography (X-ray) in a patient with malignant transformation of Enchondromatosis, also known as Ollier's Disease.

História clínica

The case involves an 11-year-old child diagnosed with Ollier's Disease during early childhood due to the presence of incipient deformities in the extremities. The patient presented with progressively worsening pain in the lower limbs. Given the suspicion of malignant transformation versus pathological fracture, a PET-CT with FDG-18 was performed, confirming the suspicion of a neoproliferative process at that level. Subsequently, the disease's evolution was monitored through bone mapping using conventional radiography.

Discussão e diagnóstico

Enchondromatosis or Ollier's Disease is a non-hereditary skeletal disorder associated with sporadic genetic mutations in the post-zygotic period. It is characterized by the presence of multiple benign intraosseous cartilaginous tumors called enchondromas, predominantly located in the metaphyseal regions and displaying an asymmetric distribution.
Radiological findings manifest as intramedullary lytic lesions causing deformities in the affected bones. In this case, due to clinical suspicion, a PET-CT was performed, revealing moderate metabolic anomalies with soft tissue involvement, highly indicative of malignant transformation.

Conclusões

Malignant transformation in enchondromatosis is rare, occurring in less than 5% of cases, and should be considered in the presence of recent-onset pain in older children. PET-CT plays a crucial role in detecting hypermetabolic foci in these situations, being essential for an accurate diagnosis of malignancy.

Palavras Chave

Sarcoma; encondroma; pediatria

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