基底凹陷、扁桃体和颅椎交界处畸形的全面综合治疗--病例报告。

IF 1.7 4区 医学 Q4 NEUROSCIENCES
International Journal of Neuroscience Pub Date : 2025-05-01 Epub Date: 2024-03-04 DOI:10.1080/00207454.2024.2311234
Nikhil Pantbalekundri, Anjalee Chiwane, Harshita Reddy, Manjit Kothari
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引用次数: 0

摘要

鸭嘴兽是枕骨和上颈椎发育异常导致的发育缺陷。这种异常的机理尚不清楚,但最被接受的理论包括枕骨基部发育异常。它往往会对脑干和颈椎产生明显的压力效应。除了肌肉骨骼症状外,这些压力效应还可能表现为类似于进行性痉挛性瘫痪、小脑症状或颅神经麻痹的症状。因此,医生和放射科医生必须熟悉临床表现和放射学检查结果。在下面这个颅底畸形患者的病例中,鉴于患者的运动症状逐渐恶化,医生建议进行手术治疗,但由于风险较高,患者的监护人拒绝了这一建议。由于经济拮据,监护人无力承担基因研究费用,而且缺乏对疾病的认识,因此无法就疾病的明确治疗做出决定。在以下病例中,可以考虑对枕骨大孔和上颈椎管进行手术重建。除了根治性神经外科手术外,强化物理治疗对显著改善患者的生活质量也至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Comprehensive and integrated management of basilar impression, platybasia and cranio-vertebral junction abnormality- a case report.

Aim: 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.

Materials and methods: 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.

Result and conclusion: 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.

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来源期刊
CiteScore
5.10
自引率
0.00%
发文量
132
审稿时长
2 months
期刊介绍: The International Journal of Neuroscience publishes original research articles, reviews, brief scientific reports, case studies, letters to the editor and book reviews concerned with problems of the nervous system and related clinical studies, epidemiology, neuropathology, medical and surgical treatment options and outcomes, neuropsychology and other topics related to the research and care of persons with neurologic disorders.  The focus of the journal is clinical and transitional research. Topics covered include but are not limited to: ALS, ataxia, autism, brain tumors, child neurology, demyelinating diseases, epilepsy, genetics, headache, lysosomal storage disease, mitochondrial dysfunction, movement disorders, multiple sclerosis, myopathy, neurodegenerative diseases, neuromuscular disorders, neuropharmacology, neuropsychiatry, neuropsychology, pain, sleep disorders, stroke, and other areas related to the neurosciences.
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