Co-existing of craniofacial fibrous dysplasia and cerebrovascular diseases: a series of 22 cases and review of the literature

Orphanet Journal of Rare Diseases

Zhi Li¹  Xiaowen Song¹ 

[1] Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, No 119, Nansihuan xilu, 100070, Beijing, China;China National Research Center for Neurological Disease, Beijing, China;

关键词: Fibrous dysplasia;    Cerebrovascular diseases;    Coexistence;    Interaction;   

DOI  :  10.1186/s13023-021-02102-x

来源: Springer

【 摘 要 】

BackgroundCraniofacial fibrous dysplasia is a fairly rare condition. Some literature have reported a few patients with craniofacial fibrous dysplasia suffering from vascular abnormalities. This study aimed to describe the possible coexistence of craniofacial fibrous dysplasia and cerebrovascular diseases for the first time.MethodWe retrospectively reviewed the 1175 patients with craniofacial fibrous dysplasia in Beijing Tiantan Hospital and the information of the 22 patients coexisted with cerebrovascular diseases were described. In addition, we performed a systematic review for cases of craniofacial fibrous dysplasia with vascular abnormalities.Result22 out of 1175 patients (1.9%) were diagnosed with craniofacial fibrous dysplasia and cerebrovascular diseases including 9 intracranial aneurysms, 4 venous malformations, 2 arteriovenous malformations, 1 moyamoya disease, 2 intracranial venous stenosis and 4 cerebral ischemia with a mean age of 38.18 years old. Only 2 patients were managed surgically for craniofacial fibrous dysplasia and 6 patients were treated with neurosurgery for cerebrovascular diseases. 8 patients were closely followed and only 1 patient’s symptoms worsened.ConclusionCraniofacial fibrous dysplasia might cause constriction of the intracranial vessels and alteration of the overall hemodynamics of the intracranial vasculature resulting in various cerebrovascular diseases. Multimodal screening and examinations seems reasonable for patients with craniofacial fibrous dysplasia for throughout treatment and prognosis evaluations.

【 授权许可】

CC BY