Zum Hauptinhalt springen
Artikel
Lizenziert
Nicht lizenziert Erfordert eine Authentifizierung

G20210A mutation and cerebral venous infarct: a rare presentation in a child

  • EMAIL logo , und
Veröffentlicht/Copyright: 13. August 2014
Veröffentlichen auch Sie bei De Gruyter Brill
Informationen für Autor*innen Erkunden Sie dieses Fachgebiet
International Journal on Disability and Human Development
Aus der Zeitschrift International Journal on Disability and Human Development Band 14 Heft 2

Abstract

A 14-month old male was admitted with a 1-day history of lethargy, vomiting, drowsiness, and pallor. His examination was unremarkable. Within 24 h of admission, he developed partial seizures on the right side of his face. Magnetic resonance imaging scan showed cerebral venous thrombosis. Subsequent investigations included a thrombophilia screen, which revealed the heterozygote for prothrombin mutation G20210A (PROG).

Keywords: cerebrum; child; mutation; thrombosis; venous infarct
Corresponding author: Oneza Ahmareen, Department of Pediatrics, Midland Regional Hospital-Pediatrics, Mullingar, Ireland, E-mail:

References

1. Se’bire G, Tabarki B, Saunders DE, Leroy I, Liesner R. Saint-Martin C, et al. Cerebral venous sinus thrombosis in children: risk factors, presentation, diagnosis and outcome. Brain 2005;128(Pt 3):477–89.10.1093/brain/awh412Suche in Google Scholar

2. Einhaupl KM, Villringer A, Meister W, Mehraein S, Garner C, Pellkofer M, et al. Heparin treatment in sinus venous hrombosis. Lancet 1991;338:597–600.10.1016/0140-6736(91)90607-QSuche in Google Scholar

3. De Veber G, Chan A, Monagle P, Marzinotto V, Armstrong D, Massicotte P, et al. Anticoagulation therapy in pediatric patients with sinovenous thrombosis. Arch Neurol 1998b;55:1533–7.10.1001/archneur.55.12.1533Suche in Google Scholar

4. Johnson MC, Parkerson N, Ward S, de Alarcon PA. Pediatric sinovenous thrombosis. J Pediatr Hematol Oncol 2003;25:312–5.10.1097/00043426-200304000-00009Suche in Google Scholar

5. Barnes C, Newall F, Furmedge J, Mackay M, Monagle P. Cerebral sinus venous thrombosis in children. J Paediatr Child Health 2004;40:53–5.10.1111/j.1440-1754.2004.00291.xSuche in Google Scholar

6. Ahmad A. Genetics of cerebral venous thrombosis. J Pak Med Assoc 2006;56:488–90.Suche in Google Scholar

7. Munchow N, Kosch A, Schobess R, Junker R, Auberger K, Nowak-Gottl U. Role of genetic prothrombotic risk factors in childhood caval vein thrombosis. Eur J Pediatr 1999;158:S109–12.10.1007/PL00014334Suche in Google Scholar

8. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698–703.10.1182/blood.V88.10.3698.bloodjournal88103698Suche in Google Scholar

9. Reuner KH, Ruf A, Grau A, Rickmann H, Stolz E, Jüttler E, et al. Prothrombin gene G20210→A transition is a risk factor for cerebral venous thrombosis. Stroke 1998;29:1765–9.10.1161/01.STR.29.9.1765Suche in Google Scholar

10. 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;1:958–62.10.1046/j.1538-7836.2003.00116.xSuche in Google Scholar

11. Kosch A, Junker R, Kurnik K, Schobess R, Günther G, Koch H, et al. Prothrombotic risk factors in children with spontaneous venous thrombosis and their asymptomatic patients: a family study. Thromb Res 2000;99:531–7.10.1016/S0049-3848(00)00287-5Suche in Google Scholar

12. Heller C, Heinecke A, Junker R, Knofler R, Kosch A, Kurnik K, et al. Cerebral venous thrombosis in children: a multifactorial origin. Circulation 2003;108:1362–7.10.1161/01.CIR.0000087598.05977.45Suche in Google Scholar PubMed

13. Arroyave JA, Quinones J. Mutation in the prothrombin gene G20210A as a cause of cerebral venous thrombosis. Case Reports in Medicine 2012;2012:828050.Suche in Google Scholar

14. De Schryver EL, Blom I, Braun KP, Kappelle LJ, Rinkel GJ, Peters AC, et al. Long-term prognosis of cerebral venous sinus thrombosis in childhood. Dev Med Child Neurol 2004;46: 514–9.10.1111/j.1469-8749.2004.tb01008.xSuche in Google Scholar

Received: 2014-4-10
Accepted: 2014-6-6
Published Online: 2014-8-13
Published in Print: 2015-5-1

©2015 by De Gruyter

Artikel in diesem Heft

  1. Frontmatter
  2. Editorials
  3. Adults, mental illness and disability
  4. Chronic illness, disease and impairment: living longer, living well
  5. Review
  6. Navigational audio games: an effective approach toward improving spatial contextual learning for blind people
  7. Mini Review
  8. Conscious capitalism to help people with hearing disability in developing countries
  9. Original Articles
  10. The influence of vibration on the quality of gait in women with cerebral palsy
  11. Attitudes of medical students toward disabilities in Nigeria
  12. A novel speech synthesizer using 3D facial model with gestures
  13. Comparison of kangaroo mother care and tactile kinesthetic stimulation in low birth weight babies – an experimental study
  14. Control of hypertension and diabetes among adults aged over 40 years with or without physical disabilities
  15. Association between quality of life and team achievement among wheelchair basketball players – a survey study
  16. A case of savant syndrome in a child with autism spectrum disorder
  17. Community physiotherapy in India: short review on research
  18. Prevalence of victimization, and associated risk factors, impacting youth with disabilities in Vietnam: a population-based study
  19. Challenge and promotion: influence of religion on Tibetan special education
  20. Case Reports
  21. Right thalamic lacunar infarction presenting with anomic aphasia
  22. G20210A mutation and cerebral venous infarct: a rare presentation in a child
  23. Letter to the Editor
  24. Zaro Agha, The legendary Kurdish supercentenarian
https://doi.org/10.1515/ijdhd-2014-0004
Schlagwörter für diesen Artikel
cerebrum; child; mutation; thrombosis; venous infarct

Artikel in diesem Heft

  1. Frontmatter
  2. Editorials
  3. Adults, mental illness and disability
  4. Chronic illness, disease and impairment: living longer, living well
  5. Review
  6. Navigational audio games: an effective approach toward improving spatial contextual learning for blind people
  7. Mini Review
  8. Conscious capitalism to help people with hearing disability in developing countries
  9. Original Articles
  10. The influence of vibration on the quality of gait in women with cerebral palsy
  11. Attitudes of medical students toward disabilities in Nigeria
  12. A novel speech synthesizer using 3D facial model with gestures
  13. Comparison of kangaroo mother care and tactile kinesthetic stimulation in low birth weight babies – an experimental study
  14. Control of hypertension and diabetes among adults aged over 40 years with or without physical disabilities
  15. Association between quality of life and team achievement among wheelchair basketball players – a survey study
  16. A case of savant syndrome in a child with autism spectrum disorder
  17. Community physiotherapy in India: short review on research
  18. Prevalence of victimization, and associated risk factors, impacting youth with disabilities in Vietnam: a population-based study
  19. Challenge and promotion: influence of religion on Tibetan special education
  20. Case Reports
  21. Right thalamic lacunar infarction presenting with anomic aphasia
  22. G20210A mutation and cerebral venous infarct: a rare presentation in a child
  23. Letter to the Editor
  24. Zaro Agha, The legendary Kurdish supercentenarian
Heruntergeladen am 30.4.2026 von https://www.degruyterbrill.com/document/doi/10.1515/ijdhd-2014-0004/html?lang=de
Button zum nach oben scrollen