Torticollis as an early manifestation of basilar invagination in a paediatric patient.

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL
Nehal Shata, Jumanah Ali, Nouf ALNosani, Ramsay MacNay
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引用次数: 0

Abstract

This case report describes the clinical journey of a male patient in early childhood with developmental delay, failure to thrive, worsening right-sided head tilt torticollis and regression of motor skills with spasticity of the lower limbs. The case was complex due to the early onset and gradually worsening symptoms, including a decline in established motor milestones. Genetic testing to investigate the delayed neurodevelopment revealed a FRA10AC1 variant that did not fully explain the patient's phenotype. Investigations were delayed due to the coronavirus disease 2019 pandemic and other factors related to the patient. Eventually, MRI revealed basilar invagination with cord compression and cord oedema at the C1-C2 junction. Treatment included foramen magnum decompression and management of symptoms using a multidisciplinary approach. Treatment resulted in a remarkable recovery. The patient regained some motor abilities and reached the 50th weight percentile.

斜颈是小儿颅底凹陷的早期表现。
本病例报告描述了一名男性儿童早期发育迟缓,发育不全,右侧头部倾斜斜颈恶化,运动技能退化伴下肢痉挛的临床历程。由于发病早且症状逐渐恶化,包括既定运动里程碑的下降,该病例很复杂。研究延迟神经发育的基因检测显示,FRA10AC1变异并不能完全解释患者的表型。由于2019年冠状病毒病大流行以及与患者相关的其他因素,调查被推迟。最终,MRI显示C1-C2连接处颅底凹陷伴脊髓受压和脊髓水肿。治疗包括枕骨大孔减压和多学科治疗。治疗的结果是显著的恢复。病人恢复了一些运动能力,达到了第50个体重百分位数。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
BMJ Case Reports
BMJ Case Reports Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
1588
期刊介绍: BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.
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