■报告一例颅底发育异常(platybasia,基底内陷和C1-C2椎体融合);并在无法手术的情况下强调非手术治疗,以提高患者的生活质量。
■该病例报告为对一名17岁女性的描述性研究,该女性被送往Wardha的农村教学三级保健医院,马哈拉施特拉邦,印度;自10岁以来,主要抱怨四肢无力。
■白斑是由于发育异常导致的枕骨和上颈椎的发育缺陷。这种异常的机制尚不清楚;然而,最被接受的理论包括反常的基底-基底发育。压力效应可能会出现类似于进行性痉挛性瘫痪的症状,小脑症状,或者颅神经麻痹,除了肌肉骨骼症状.是的,因此,对于熟悉临床表现和放射学发现的医生和放射科医生来说至关重要。在以下颅底异常患者的情况下,鉴于运动症状逐渐恶化,建议进行手术干预,然而,由于涉及高风险,监护人拒绝了同样的选择。由于资金紧张,基因研究负担不起,缺乏对疾病的认识阻碍了监护人对疾病的明确管理做出决定。除了根治性神经外科手术,强化物理治疗对于显著改善患者的生活质量至关重要。
UNASSIGNED: To report a case of anomalous development of base of skull (
platybasia, Basilar invagination and C1-C2 vertebral fusion); and emphasize nonsurgical management in inoperable cases that can improve quality of life of the patient.
UNASSIGNED: The case is reported as a descriptive study of a 17-year-old female who presented to a rural teaching tertiary care hospital in Wardha, Maharashtra, India; with chief complaints of weakness in all four limbs since 10 years of age.
UNASSIGNED: Platybasia is a developmental defect of the occipital bone and upper cervical spine resulting from anomalous development. The mechanism of such anomalies is not known; however, the most accepted theory includes abnormal basi-occiput development. The pressure effects may present signs similar to progressive spastic paralysis, cerebellar symptoms, or cranial nerve palsy, in addition to musculoskeletal symptoms. It is, therefore, crucial for physicians and radiologists to be familiar with clinical manifestations and radiological findings. In the following case of a patient with base of skull anomalies, surgical intervention in view of progressive worsening of motor symptoms was advised, however, the guardians declined the same due to high risk involved. Due to financial constraints, genetic studies were unaffordable, and a lack of awareness regarding the disease hampered the guardians from making a decision on the definite management of the disease. Besides radical neurosurgery, intensive physiotherapy can prove vital in significantly improving the quality of life for the patient.