دورية أكاديمية
Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology.
| العنوان: | Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology. |
|---|---|
| المؤلفون: | Abruzzo T; Department of Radiology (T.A., P.C., S.B.) tabruzzo@phoenixchildrens.com.; Department of Child Health (T.A., M.D., P.C., S.B.), College of Medicine, University of Arizona, Phoenix, Arizona., van den Berg R; Department of Radiology and Nuclear Medicine (R.v.d.B., S.D.R.), Amsterdam University Medical Centers, Amsterdam, the Netherlands., Vadivelu S; Department of Neurosurgery (S.V.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Hetts SW; Department of Radiology (S.W.H.), University of California, San Francisco, San Francisco, California., Dishop M; Department of Pathology and Laboratory Medicine (M.D.).; Department of Child Health (T.A., M.D., P.C., S.B.), College of Medicine, University of Arizona, Phoenix, Arizona., Cornejo P; Department of Radiology (T.A., P.C., S.B.).; Department of Child Health (T.A., M.D., P.C., S.B.), College of Medicine, University of Arizona, Phoenix, Arizona., Narayanan V; Translational Genomics Research Institute (V.N., K.E.R.), Phoenix, Arizona., Ramsey KE; Translational Genomics Research Institute (V.N., K.E.R.), Phoenix, Arizona., Coopwood C; College of Medicine (C.C.), University of Arizona, Tucson, Arizona tabruzzo@phoenixchildrens.com., Medici-van den Herik EG; Department of Neurology (E.G.M.-v.d.H.), Erasmus Medical Center, Rotterdam, the Netherlands., Roosendaal SD; Department of Radiology and Nuclear Medicine (R.v.d.B., S.D.R.), Amsterdam University Medical Centers, Amsterdam, the Netherlands., Lawton M, Bernes S; Department of Radiology (T.A., P.C., S.B.).; Department of Neurology (S.B.).; Department of Child Health (T.A., M.D., P.C., S.B.), College of Medicine, University of Arizona, Phoenix, Arizona. |
| المصدر: | AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2022 Jul; Vol. 43 (7), pp. 1060-1067. Date of Electronic Publication: 2022 Jun 30. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Oak Brook, IL : American Society of Neuroradiology Original Publication: Baltimore, Williams & Wilkins. |
| مواضيع طبية MeSH: | Spinal Cord Diseases*/diagnostic imaging , Spinal Cord Diseases*/genetics , Spinal Cord Diseases*/pathology, Angiography ; Child ; Humans ; Magnetic Resonance Imaging ; Retrospective Studies ; Spinal Cord/pathology |
| مستخلص: | Pediatric patients with myelopathy expressing intradural spinal vascular ectasia without arteriovenous shunting were studied at four tertiary referral neuropediatric centers. Patients were identified by retrospective review of institutional records and excluded if spinal vascular pathology could be classified into a previously described category of spinal vascular malformation. Four patients meeting the study criteria were enrolled in the study. Clinical, magnetic resonance imaging, catheter-directed angiography, laboratory, histological and genetic data were analyzed to characterize the disease process and elucidate underlying pathomechanisms. Our study revealed a highly lethal, progressive multi-segmental myelopathy associated with a unique form of non-inflammatory spinal angiopathy featuring diffuse enlargement and tortuosity of spinal cord arteries, spinal cord hyperemia, and spinal cord edema (Arterioectatic Spinal Angiopathy of Childhood). The condition was shown to mimic venous congestive myelopathy associated with pediatric spinal cord arteriovenous shunts on MRI but to have distinct pathognomonic findings on catheter-directed angiography. Clinicopathological, genetic, and neuroimaging features, which are described in detail, closely overlap with those of mitochondrial disease. (© 2022 by American Journal of Neuroradiology.) |
| References: | Ann Neurol. 2005 Dec;58(6):929-38. (PMID: 16315274) Neurol Genet. 2021 Feb 02;7(2):e559. (PMID: 33977142) Acta Neurol Belg. 2012 Mar;112(1):15-8. (PMID: 22427284) Sci Rep. 2019 Sep 20;9(1):13658. (PMID: 31541184) AJNR Am J Neuroradiol. 2021 Jan;42(2):389-396. (PMID: 33384291) J Stroke Cerebrovasc Dis. 2017 Apr;26(4):915. (PMID: 28242248) Nutr Metab Cardiovasc Dis. 2012 May;22(5):393-9. (PMID: 22520486) J Child Neurol. 2016 Apr;31(5):652-62. (PMID: 26275973) AJNR Am J Neuroradiol. 1995 Nov-Dec;16(10):2049-57. (PMID: 8585493) World J Cardiol. 2016 May 26;8(5):333-9. (PMID: 27231520) Front Pediatr. 2021 Jan 14;8:599861. (PMID: 33520891) Mol Vis. 2011 Apr 24;17:1011-5. (PMID: 21541272) Childs Nerv Syst. 2006 Sep;22(9):1103-10. (PMID: 16586138) JAMA Neurol. 2016 May 1;73(5):591-4. (PMID: 26954033) Mol Genet Metab. 2018 Mar;123(3):301-308. (PMID: 29428506) EMBO Rep. 2020 Sep 3;21(9):e50964. (PMID: 32852136) J Intern Med. 2020 Jun;287(6):609-633. (PMID: 32176382) J Neurosurg. 2002 Mar;96(2 Suppl):145-56. (PMID: 12450276) Neurosurgery. 2005 Nov;57(5):973-83; discussion 973-83. (PMID: 16284566) AMA Arch Neurol Psychiatry. 1952 Sep;68(3):339-61. (PMID: 14952072) J Neurol. 1999 Sep;246(9):852-4. (PMID: 10525990) Stroke. 2008 Mar;39(3):878-85. (PMID: 18239181) Curr Treat Options Neurol. 2009 Nov;11(6):414-30. (PMID: 19891905) J Neurosurg. 1976 May;44(5):613-6. (PMID: 1262922) J Clin Immunol. 2020 Nov;40(8):1103-1110. (PMID: 32851577) AJNR Am J Neuroradiol. 2016 Mar;37(3):565-71. (PMID: 26611990) Open Neurol J. 2015 Jun 26;9:28-31. (PMID: 26191091) Pediatr Neurol. 2020 Jul;108:117-120. (PMID: 32248988) Braz J Med Biol Res. 2015 Apr;48(4):354-62. (PMID: 25714882) Taiwan J Obstet Gynecol. 2006 Sep;45(3):201-7. (PMID: 17175464) AJNR Am J Neuroradiol. 2017 Sep;38(9):1814-1819. (PMID: 28729296) Brain. 2004 Oct;127(Pt 10):2153-72. (PMID: 15358637) Childs Nerv Syst. 2019 Jun;35(6):945-955. (PMID: 30843101) Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):18007-12. (PMID: 25468970) Neurosurgery. 2002 Aug;51(2):374-9; discussion 379-80. (PMID: 12182775) Nat Genet. 2016 Jan;48(1):74-8. (PMID: 26642240) Nature. 2015 Sep 3;525(7567):124-8. (PMID: 26214738) Mol Genet Metab. 2011 Jun;103(2):167-70. (PMID: 21406331) Curr Neurovasc Res. 2018;15(3):175-185. (PMID: 29998805) Pediatr Neurol. 2017 Jan;66:82-88. (PMID: 27843091) Pediatr Neurol. 2008 May;38(5):305-13. (PMID: 18410845) Blood Adv. 2018 Aug 14;2(15):1914-1922. (PMID: 30093529) |
| معلومات مُعتمدة: | R01 EB012031 United States EB NIBIB NIH HHS |
| تواريخ الأحداث: | Date Created: 20220630 Date Completed: 20220711 Latest Revision: 20240624 |
| رمز التحديث: | 20240624 |
| مُعرف محوري في PubMed: | PMC9262071 |
| DOI: | 10.3174/ajnr.A7551 |
| PMID: | 35772802 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1936-959X |
|---|---|
| DOI: | 10.3174/ajnr.A7551 |