赫勒综合征:病因、表现和生活并发症:病例报告

Nadeen Haj Ahmad, Marawan El Naboulsy, Hadi Khazaal, Ramtin Dastgir, Faisal Quereshy, Dale Baur
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引用次数: 0

摘要

赫勒综合征是一种罕见的遗传性溶酶体储积症,其表现和并发症多种多样,从肌肉骨骼畸形到心脏和角膜问题,不一而足。由于伴有心脏问题,确诊患者的预期寿命通常不超过 10 岁。然而,根据并发症的不同,一些治疗方法可以提高这些患者的生活质量。我们的病例报告回顾了一对双胞胎的病例,这对双胞胎被诊断患有冠状动脉综合征,并通过冠状动脉途径接受了双侧冠状动脉切除术。采取这种方法的原因是双侧冠状突上伸至颞下窝,他们的颧弓较低,冠状突增生导致张口严重受限。冠状法包括双侧冠状突切除术,同时切除颧弓上的内部外生骨,在镇静状态下进行操作,并进一步使用物理疗法/OraStretch 装置,最终使两名患者的最大张口度达到 35 毫米。
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Hurler syndrome: Etiology, manifestations, and life complications: A case report
Hurler syndrome is a rare genetic lysosomal storage disorder with a wide range of manifestations and complications ranging from musculoskeletal deformities to cardiac and corneal problems. The life expectancy of diagnosed patients does not usually exceed 10 years of age due to the associated cardiac problems. However, depending on the complication presented, some treatment modalities are offered to enhance the quality of life for these patients. Our case report reviews a case of a set of twins diagnosed with the syndrome, who have undergone bilateral coronoidectomy via a coronal approach. This approach was taken due to the superior extension of the coronoid processes into the infratemporal fossae bilaterally, their low zygomatic arches, and the severely limited mouth opening associated with coronoid hyperplasia. A coronal approach that included a bilateral coronoidectomy with the removal of internal exophytic bone on the zygomatic arch, along with manipulation under sedation and further physiotherapy/OraStretch device was used to reach the final maximum mouth opening of 35 mm for both patients.
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