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Fibrous dysplasia of the clivus - A case study and literature review.

ABSTRACT: Fibrous dysplasia is a benign, congenital skeletal disorder which leads to the formation of fibro-osseous intramedullary bone lesions. Clival fibrous dysplasia is a rare variant which commonly presents asymptomatically with no findings on examination and is often picked up incidentally on radiological investigation. A 39-year-old female presented with a sudden onset headache of 3 days' duration alongside diplopia and right lower limb weakness upon examination. Computerized tomography head scan revealed an expansile clivus with a ground-glass appearance, magnetic resonance imaging brain scan revealed a predominantly hypointense signal on T1- and T2-weighted images and subsequent whole-body bone imaging confirmed the diagnosis of monostotic clival fibrous dysplasia. This case highlights the importance of considering monostotic clival fibrous dysplasia as a differential diagnosis in patients presenting with sudden onset symptoms of headache alongside cranial and peripheral nerve involvement, when other more sinister causes have been excluded.

SUBMITTER: Butt A

PROVIDER: S-EPMC7708769 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Fibrous dysplasia of the clivus - A case study and literature review.

Butt Aqeel A Patel Kunj K Agrawal Kanupriya K Arya Alok A Singh Jaswinder J

Radiology case reports 20201128 2

Fibrous dysplasia is a benign, congenital skeletal disorder which leads to the formation of fibro-osseous intramedullary bone lesions. Clival fibrous dysplasia is a rare variant which commonly presents asymptomatically with no findings on examination and is often picked up incidentally on radiological investigation. A 39-year-old female presented with a sudden onset headache of 3 days' duration alongside diplopia and right lower limb weakness upon examination. Computerized tomography head scan r ...[more]

PMID: 33304432

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Project description:RationaleFibrous dysplasia is a rare disorder that results in fractures, pain, and disability and can affect any bone in the body. The treatment of symptomatic fibrous dysplasia is determined based on the affected bones. Although some lesions are often too extensive for surgical procedures, there are currently no effective or recommended medical treatments available for them.Patient concernsA 27-year-old woman developed right buttock pain and was diagnosed with a bone tumor in the right ilium. Clinical images revealed an expansive osteolytic lesion with thinning of the cortex and cystic change from the acetabulum to the sacroiliac joint.DiagnosisAn incisional biopsy was performed, and the lesion was diagnosed as cystic fibrous dysplasia. Occasional osteoclast-like giant cells and woven bone were observed. The patient had no evidence of polyostotic lesions or findings of McCune-Albright syndrome. Biochemical blood test results showed no obvious abnormal values, except for an increase in serum tartrate-resistant acid phosphatase 5b to 459 mU/dL.InterventionsSince surgical treatment appeared to be challenging, she was treated with denosumab with decreased dose-intensity schedules.OutcomesThe administration of denosumab caused osteosclerosis within the lesion, resulting in the elimination of bone pain. The patient received denosumab treatment for 18 months. Pain relief and lesion radiodensity were maintained for 9 months after denosumab discontinuation. The serum level of tartrate-resistant acid phosphatase 5b was measured to monitor the response to denosumab, which was suppressed during denosumab treatment.LessonsWe described successful denosumab treatment in a patient with cystic fibrous dysplasia (FD) who maintained efficacy for 9 months after treatment. Although the use of denosumab in fibrous dysplasia is currently off-label, our experience with this patient supports the potential of denosumab therapy for patients for whom surgical treatment is challenging.

Project description:BackgroundCraniopharyngioma (CP) and cranial fibrous dysplasia (CFD) are rare embryonic benign cranial diseases that most commonly present during childhood or adolescence. The coexistence of CP and CFD is extremely rare and has not yet been reported.MethodsWe retrospectively reviewed the data of five patients with concomitant CP and CFD treated at Beijing Tiantan Hospital from January 2003 to January 2021 and summarized their clinicopathological features, treatment modalities, and outcomes. We also performed a comprehensive literature review, tested the patients for characteristic GNAS gene mutations related to CFD, and tested the CP specimens for corresponding Gsα protein to explore the potential connection leading to the coexistence of CP and CFD.ResultsThe cohort comprised four men and one woman (median age, 39 years). The symptoms mainly included headache, dizziness, fatigue, polyuria/polydipsia, hypogonadism, and blurred vision. CFD most commonly involved the sphenoid bone (n = 4). Four patients underwent surgery to remove the CP (one trans-sphenoidal and three transcranial resections); complete and subtotal resection were achieved in two patients, respectively. The tumor subtype was adamantinomatous in three patients and unknown in one. The common postoperative complications were panhypopituitarism, diabetes insipidus, and hypothyroidism. The mean follow-up duration was 57.2 months. Two patients required postoperative hormone replacement therapy. Three patients underwent genetic study of the tumor specimens; GNAS mutations were not detected, but these patients were positive for Gsα protein.ConclusionsAlthough a definite causative relationship has not been proved, the coexistence of CP and CFD means that potential interplay or an atypical fibrous dysplasia course as uncommon manifestations of CP cannot be excluded. It is more challenging to initiate prompt diagnosis and appropriate treatment for concomitant CP and CFD than for solitary CP because of skull base deformations. Current management strategies are aimed at surgical treating the CP and regularly monitoring the CFD.

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Fibrous dysplasia of the clivus - A case study and literature review.

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Fibrous dysplasia of the clivus - A case study and literature review.

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