Mahajan Satish, Talwar Dhruv, Kumar Sunil, Acharya Sourya, Iratwar Sandeep, Annadatha Akhilesh
Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Science (Deemed to be University), Wardha, IND.
Department of Neurosurgery, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Science (Deemed to be University), Wardha, IND.
Cureus. 2021 Nov 8;13(11):e19365. doi: 10.7759/cureus.19365. eCollection 2021 Nov.
Marfan syndrome is a spectrum of disorders caused by a genetic defect involving connective tissue and is heritable by the autosomal dominant mode of inheritance. Atlantooccipital assimilation is a partial or complete fusion of the atlas and the occiput base congenitally. Although primarily asymptomatic, some patients with atlantooccipital assimilation may present with neurological issues, including myelopathy. Here, we are discussing a case of an 18-year-old male who presented with bilateral paraesthesia, tingling and neck pain which, upon investigations, turned out to be a case of atlantooccipital assimilation along with basilar invagination with spinal cord compression. The patient also had marfanoid features like tall stature, reduced upper to lower segment ratio, and increased arm span to height with positive wrist and thumb signs. As myelopathy had already developed, the patient was treated surgically rather than with medical management with a favorable outcome.
马凡综合征是一种由涉及结缔组织的基因缺陷引起的一系列疾病,通过常染色体显性遗传模式遗传。寰枕融合是指寰椎与枕骨基部先天性部分或完全融合。虽然主要无症状,但一些寰枕融合患者可能出现神经问题,包括脊髓病。在此,我们讨论一例18岁男性病例,该患者出现双侧感觉异常、刺痛和颈部疼痛,经检查发现是一例寰枕融合合并基底凹陷伴脊髓受压。该患者还具有类马凡氏特征,如身材高大、上下身比例降低、臂展与身高比值增加以及腕部和拇指征阳性。由于脊髓病已经发展,该患者接受了手术治疗而非药物治疗,结果良好。