Several surgical options are available for treating the different types of craniosynostosis, including fronto-orbital advancement and remodeling, total or subtotal cranial vault remodeling, barrel stave osteotomy with cranial remodeling, endoscopic suturectomy, monobloc advancement and cranioplasty, and revision cranioplasty. High-resolution, low-dose CT with 3D reconstructed images and volumetric analysis can be useful for evaluating the craniofacial skeleton following surgery. The various types of craniosynostosis surgery and corresponding imaging findings are reviewed in this article.
We report a case of a 6-year old girl with known type 3 Gaucher's Disease on enzyme replacement therapy who developed bilateral, symmetric osteolytic lesions in her humeri and femurs. While this manifestation of Gaucher's disease has been previously documented, it is an exceedingly rare variation. We observe that this patient shares 2 commonalities with 3 other patients reported in the literature to present with this phenotype. First, the patient's L444P/L444P genotype, present in approximately 11% of all Gaucher's patients, was also seen in these other patients. Second, like the other patients, this patient was treated with enzyme replacement therapy. It is unknown whether there is a correlation between these 2 independent variables and this rare phenotype, and further investigation may be warranted.
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