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Related Experiment Videos

[Maffucci syndrome: an historical case].

M Fikri1, I Chaoui, A El Quessar

  • 1Service de radiologie, hôpital des spécialités ONO, Rabat, Morocco. meriemfikri@yahoo.fr

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|October 10, 2006
PubMed
Summary

Maffucci syndrome, a rare condition, was diagnosed in a 24-year-old patient through clinical, imaging, and histological data. This report details the case, covering clinical presentation, radiological findings, disease progression, and therapeutic options.

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Area of Science:

  • Medicine
  • Genetics
  • Radiology

Background:

  • Maffucci syndrome is a rare, sporadic congenital disorder characterized by the presence of multiple enchondromas and hemangiomas.
  • It typically presents in childhood or adolescence, with a predilection for the limbs.

Observation:

  • A 24-year-old patient presented with clinical signs suggestive of Maffucci syndrome.
  • Diagnostic workup included comprehensive clinical examination, advanced imaging techniques (radiography, MRI), and histological analysis of biopsied lesions.
  • The findings confirmed the presence of enchondromas and hemangiomas, consistent with Maffucci syndrome.

Findings:

  • The case highlights the diagnostic utility of integrating clinical, radiological, and histological data for Maffucci syndrome.
  • The report discusses the specific clinical and radiological manifestations observed in this patient.

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  • Evolutionary aspects and the natural history of the syndrome in this individual are also detailed.

    • Implications:

    • Accurate diagnosis of Maffucci syndrome is crucial for appropriate management and monitoring.
    • Understanding the clinical and radiological features aids in differentiating it from other bone and vascular disorders.
    • This case contributes to the literature on Maffucci syndrome, informing potential therapeutic strategies and long-term patient care.