Ollier disease and neurological complications—a clinical case

Abstract

Ollier disease, also known as enchondromatosis, is a rare skeletal disease with an estimated prevalence of about 1/100,000. It is characterized by the presence of multiple intraosseous, usually benign cartilage tumors, enchondromas, showing a risk of malignant transformation. The latter is very likely in patients with Maffucci syndrome, where, in addition to enchondromatosis, multiple hemangiomas are observed. Cases of the disease with involvement of the skull bones and intracranial tumor masses have been described in the literature. According to some authors, the treatment of intracranial enchondromes is surgical, aiming at a complete removal. According to others, emphasis should be placed on monitoring, as lesions may remain asymptomatic and surgical resection may lead to additional complications. This article presents the case of a woman with known Ollier disease, hospitalized because of severe headache and blurred vision, presenting with limited mobility of the eyeballs inwards and upwards, with computed tomography data for tumor formation on the right parasellar with multiple cell calcifications interpreted as related to the underlying disease. Some diagnostic and therapeutic challenges in this rare pathology have been discussed.