ISSN 1470-3947 (print)
ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology

Published by BioScientifica
Endocrine Abstracts (2010) 22 P663 
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Sellar lesions in Ollier disease: case report and a review of the literature

Marie-Lise Jaffrain-Rea1,2, Felice Giangaspero1, Vincenzo Esposito1 & Giampaolo Cantore1

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Ollier disease (OD) is a rare disease, with multiple enchondromas localized in the metaphysis of long bones, hands and feet, developing in the first decade of life, with potential malignant transformation into chondrosarcomas. OD is usually sporadic and probably caused by post-zygotic genetic alterations leading to mosaicism. A PTH/PTHrP receptor type 1 (PTHR1) gene mutation is present in some cases.

Case report: A 21-years old male patient was referred to the Neuromed Institute because of a sellar/parasellar mass revealed by left subclinical hypoacusia. OD was diagnosed at 10 years-old because of a wrist fracture, with multiple lesions in both hands, followed by a large tibial osteolytic lesion. In April 2009, cerebral MRI showed a voluminous, heterogenous lesion involving the sphenoid bone and the sella turcica, with a left petroclival and suprasellar extension. The anterior pituitary was poorly visualized, the neurohypophysis could not be identified. The patient was poorly symptomatic, partial diplopia but no visual field defects were observed. He had normal somatic growth (184 cm, 91 kg) and pubertal development, no polyurodipsia. Basal pituitary functions were within normal limits, as were serum electrolytes, calcemia and PTH. Transphenoidal biopsy was performed, concluding for an enchondroma. Surgery was followed by transient diabetes insipidus and close follow-up was proposed. No evolution was observed over a 6-months period.

Comments: Patients with OD are followed-up for the evolution of peripheral bone lesions. However, there is accumulating evidence that intracranial neoplasms (chondrosarcomas and non-sarcomatous neoplasms) may develop in adults with OD or its variant, associated with soft tissue hemangiomas, the Maffucci syndrome (MS). Enchondromas of the sellar region can be observed in both OD and MS, pituitary adenomas being also reported in MS. Systematic screening for central lesions in enchondromatosis patients should be sought in order to favour precocious diagnosis and resolutive treatment.

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