Shata Nehal, Ali Jumanah, ALNosani Nouf, MacNay Ramsay
McMaster Children's Hospital/ Hamilton Health Sciences, Hamilton, Ontario, Canada
Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.
BMJ Case Rep. 2024 Dec 18;17(12):e262625. doi: 10.1136/bcr-2024-262625.
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 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.
本病例报告描述了一名男性幼儿的临床病程，该患儿存在发育迟缓、生长发育不良、右侧斜颈加重以及运动技能倒退并伴有下肢痉挛。由于症状早发且逐渐加重，包括已建立的运动里程碑倒退，该病例较为复杂。为调查神经发育延迟进行的基因检测发现了一个变异，但该变异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，检查有所延迟。最终，磁共振成像（MRI）显示颅底陷入症，伴有C1-C2交界处脊髓受压和脊髓水肿。治疗包括枕骨大孔减压以及采用多学科方法管理症状。治疗带来了显著的康复效果。患者恢复了一些运动能力，体重达到了第50百分位。
