Hyperacute anterior spinal artery infarction in a child with prothrombin G20210A mutation: a case report with brief review of literature

Authors

  • Sapna Singh Department of Paediatric Neurology, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, India
  • Praveen Kumar Department of Paediatric Neurology, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, India
  • Rama K. Sabharwal Department of Paediatric Neurology, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, India
  • Divya Agrawal Department of Paediatric Neurology, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20253797

Keywords:

Spinal cord infarction, Quadriplegia, Prothrombin G20210A

Abstract

Anterior spinal artery territory infarction in children is rare, resulting from hypoperfusion or occlusion of the anterior spinal artery. The ischemia involves the anterior two-thirds of the spinal cord. It presents acutely with pain, para- or quadriplegia, dissociated sensory loss, bowel and bladder involvement, respiratory distress, and autonomic dysfunction. We present a case of a 14-year-old previously healthy girl, who presented with hyperacute quadriplegia and respiratory failure. Physical examination was compatible with a high cervical spinal cord lesion. Magnetic resonance imaging (MRI) of the spine with diffusion weighted imaging (DWI) revealed lesion of the ventral cervical cord between C2 and C6 levels, suggestive of infarct in the anterior spinal artery territory. Genetic studies revealed a prothrombin G20210A heterozygous mutation. She was treated with anticoagulants and supportive care. She showed good improvement and was ambulant 6 months later.

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References

Barreras P, Fitzgerald KC, Mealy MA, Jimenez JA, Becker D, Newsome SD, et al. Clinical biomarkers differentiate myelitis from vascular and other causes of myelopathy. Neurology. 2018;90(1):e12-e21. DOI: https://doi.org/10.1212/WNL.0000000000004765

Zalewski NL, Flanagan EP, Keegan BM. Evaluation of idiopathic transverse myelitis revealing specific myelopathy diagnoses. Neurology. 2018;90:e96-e102. DOI: https://doi.org/10.1212/WNL.0000000000004796

Masson C, Pruvo JP, Meder JF, Cordonnier C, Touzé E, De La Sayette V, et al. Spinal cord infarction: clinical and magnetic resonance imaging findings and short term outcome. J Neurol Neurosurg Psychiatry. 2004;75(10):1431-5. DOI: https://doi.org/10.1136/jnnp.2003.031724

Cheng MY, Lyu RK, Chang YJ, Chen RS, Huang CC, Wu T, et al. Spinal cord infarction in Chinese patients. Clinical features, risk factors, imaging and prognosis. Cerebrovasc Dis. 2008;26(5):502-8. DOI: https://doi.org/10.1159/000155988

Novy J, Carruzzo A, Maeder P, Bogousslavsky J. Spinal cord ischemia: clinical and imaging patterns, pathogenesis, and outcomes in 27 patients. Arch Neurol. 2006;63:1113-20. DOI: https://doi.org/10.1001/archneur.63.8.1113

Kramer CL. Vascular disorders of the spinal cord. Continuum (Minneap Minn). 2018;24:407-26. DOI: https://doi.org/10.1212/CON.0000000000000595

Sheikh A, Warren D, Childs AM, Russell J, Liddington M, Guruswamy V, et al. Paediatric spinal cord infarction-a review of the literature and two case reports. Childs Nerv Syst. 2017;33:671-6. DOI: https://doi.org/10.1007/s00381-016-3295-8

Young G, Krohn KA, Packer RJ. Prothrombin G20210A mutation in a child with spinal cord infarction. J Pediatr. 1999;134:777-9. DOI: https://doi.org/10.1016/S0022-3476(99)70298-2

Sawaya R, Diken Z, Mahfouz R. Acute quadriplegia in a young man secondary to prothrombin G20210A mutation. Spinal Cord. 2011;49:942-3. DOI: https://doi.org/10.1038/sc.2011.22

Chiasakul T, De Jesus E, Tong J, Chen Y, Crowther M, Garcia D, et al. Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta-Analysis. J Am Heart Assoc. 2019;8(19):e012877. DOI: https://doi.org/10.1161/JAHA.119.012877

Mercier E, Quere I, Campello C, Mares P, Gris JC. The 20210A allele of the prothrombin gene is frequent in young women with unexplained spinal cord infarction. Blood. 1998;92(5):1840-1. DOI: https://doi.org/10.1182/blood.V92.5.1840

Young G, Manco-Johnson M, Gill JC, Dimichele DM, Tarantino MD, Abshire T, et al. Clinical manifestations of the prothrombin G20210A mutation in children: a pediatric coagulation consortium study. J Thromb Haemost. 2003;1(5):958-62. DOI: https://doi.org/10.1046/j.1538-7836.2003.00116.x

Sohal AS, Sundaram M, Mallewa M, Tawil M, Kneen R. Anterior spinal artery syndrome in a girl with Down syndrome: case report and literature review. J Spinal Cord Med. 2009;32:349-54. DOI: https://doi.org/10.1080/10790268.2009.11760789

Salomi BSB, Christudass CS, Aaron S, Turaka VP. Prothrombin G20210A polymorphism in patients with venous and cryptogenic arterial strokes among ethnic groups in south and north India. Natl Med J India. 2019;32:213-5. DOI: https://doi.org/10.4103/0970-258X.291290

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Published

2025-11-25

How to Cite

Singh, S., Kumar, P., Sabharwal, R. K., & Agrawal, D. (2025). Hyperacute anterior spinal artery infarction in a child with prothrombin G20210A mutation: a case report with brief review of literature. International Journal of Contemporary Pediatrics, 12(12), 2063–2065. https://doi.org/10.18203/2349-3291.ijcp20253797

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Section

Case Reports