Advertisement

Child's Nervous System

, Volume 33, Issue 8, pp 1405–1409 | Cite as

Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia

  • Yoshio ArakiEmail author
  • Yasushi Takagi
  • Yohei Mineharu
  • Hatasu Kobayashi
  • Susumu Miyamoto
  • Toshihiko Wakabayashi
Case Report

Abstract

Background

Focal cerebral arteriopathy includes unifocal or multifocal lesions that are unilateral or bilateral. Large- and/or medium-sized vessels are involved and can be visualized on angiography.

Case report

We report a case of cerebral infarction in a 9-year-old Japanese female who presented with a transient ischemic attack. Steno-occlusion involving the distal part of the internal carotid artery, proximal middle cerebral artery, and anterior cerebral artery was observed. Digital subtraction angiography demonstrated a beaded appearance in the cervical portion of the diseased internal carotid artery. Revascularization surgery was performed 45 days after the onset. A new infarction appeared on the other side of the anterior cerebral artery territory 7 months after the first onset. Antiplatelets and vasodilators were administered, and no progression was observed during 18 months of follow-up. Genetic analysis did not show ring finger protein 213 (RNF213)-related moyamoya disease, and pathological examination revealed no characteristics of fibromuscular dysplasia.

Conclusion

The radiological and genetic features coincided with focal cerebral arteriopathy, which is a distinct entity from fibromuscular dysplasia and RNF213-related moyamoya disease.

Keywords

Focal cerebral arteriopathy RNF213 Moyamoya disease Fibromuscular dysplasia 

Notes

Compliance with ethical standards

Funding

No sources of financial or material support were gained for conducting this study.

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from the participant included in this case report.

References

  1. 1.
    Amlie-Lefond C, Bernard TJ, Sebire G, Friedman NR, Heyer GL, Lerner NB, DeVeber G, Fullerton HJ (2009) Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the International Pediatric Stroke Study. Circulation 119:1417–1423CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Bernard TJ, Manco-Johnson MJ, Lo W, MacKay MT, Ganesan V, DeVeber G, Goldenberg NA, Armstrong-Wells J, Dowling MM, Roach ES, Tripputi M, Fullerton HJ, Furie KL, Benseler SM, Jordan LC, Kirton A, Ichord R (2012) Towards a consensus-based classification of childhood arterial ischemic stroke. Stroke 43:371–377CrossRefPubMedGoogle Scholar
  3. 3.
    Braun KP, Bulder MM, Chabrier S, Kirkham FJ, Uiterwaal CS, Tardieu M, Sebire G (2009) The course and outcome of unilateral intracranial arteriopathy in 79 children with ischaemic stroke. Brain 132:544–557CrossRefPubMedGoogle Scholar
  4. 4.
    Fullerton HJ, Wintermark M, Hills NK, Dowling MM, Tan M, Rafay MF, Elkind MS, Barkovich AJ, de Veber GA (2016) Risk of recurrent arterial ischemic stroke in childhood: a prospective international study. Stroke 47:53–59CrossRefPubMedGoogle Scholar
  5. 5.
    Kimura H, Hosoda K, Hara Y, Kohmura E (2008) A very unusual case of fibromuscular dysplasia with multiple aneurysms of the vertebral artery and posterior inferior cerebellar artery. J Neurosurg 109:1108–1112CrossRefPubMedGoogle Scholar
  6. 6.
    Kirton A, Crone M, Benseler S, Mineyko A, Armstrong D, Wade A, Sebire G, Crous-Tsanaclis AM, de Veber G (2013) Fibromuscular dysplasia and childhood stroke. Brain 136:1846–1856CrossRefPubMedGoogle Scholar
  7. 7.
    Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A (2011) Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 6:e22542CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Mineharu Y, Takagi Y, Takahashi JC, Hashikata H, Liu W, Hitomi T, Kobayashi H, Koizumi A, Miyamoto S (2013) Rapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variant. Cerebrovasc Dis 36:155–157CrossRefPubMedGoogle Scholar
  9. 9.
    Mineyko A, Kirton A (2013) Mechanisms of pediatric cerebral arteriopathy: an inflammatory debate. Pediatr Neurol 48:14–23CrossRefPubMedGoogle Scholar
  10. 10.
    Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N (2012) Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology 78:803–810CrossRefPubMedGoogle Scholar
  11. 11.
    Miyawaki S, Imai H, Shimizu M, Yagi S, Ono H, Mukasa A, Nakatomi H, Shimizu T, Saito N (2013) Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis/occlusion. Stroke 44:2894–2897CrossRefPubMedGoogle Scholar
  12. 12.
    Osborn AG, Anderson RE (1977) Angiographic spectrum of cervical and intracranial fibromuscular dysplasia. Stroke 8:617–626CrossRefPubMedGoogle Scholar
  13. 13.
    Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis; Health Labour Sciences Research Grant for Research on Measures for Intractable Diseases (2012) Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis). Neurol Med Chir (Tokyo) 52:245–266CrossRefGoogle Scholar
  14. 14.
    Strater R, Becker S, von Eckardstein A, Heinecke A, Gutsche S, Junker R, Kurnik K, Schobess R, Nowak-Gottl U (2002) Prospective assessment of risk factors for recurrent stroke during childhood—a 5-year follow-up study. Lancet 360:1540–1545CrossRefPubMedGoogle Scholar
  15. 15.
    Swartz RH, Bhuta SS, Farb RI, Agid R, Willinsky RA, Terbrugge KG, Butany J, Wasserman BA, Johnstone DM, Silver FL, Mikulis DJ (2009) Intracranial arterial wall imaging using high-resolution 3-tesla contrast-enhanced MRI. Neurology 72:627–634CrossRefPubMedGoogle Scholar
  16. 16.
    Tolani AT, Yeom KW, Elbers J (2015) Focal cerebral arteriopathy: the face with many names. Pediatr Neurol 53:247–252CrossRefPubMedGoogle Scholar
  17. 17.
    Wintermark M, Hills NK, de Veber GA, Barkovich AJ, Elkind MS, Sear K, Zhu G, Leiva-Salinas C, Hou Q, Dowling MM, Bernard TJ, Friedman NR, Ichord RN, Fullerton HJ (2014) Arteriopathy diagnosis in childhood arterial ischemic stroke: results of the vascular effects of infection in pediatric stroke study. Stroke 45:3597–3605CrossRefPubMedPubMedCentralGoogle Scholar
  18. 18.
    Yeon JY, Shin HJ, Seol HJ, Kim JS, Hong SC (2014) Unilateral intracranial arteriopathy in pediatric stroke: course, outcome, and prediction of reversible arteriopathy. Stroke 45:1173–1176CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Department of NeurosurgeryNagoya University Graduate School of MedicineNagoyaJapan
  2. 2.Department of NeurosurgeryKyoto University Graduate School of MedicineKyotoJapan
  3. 3.Department of Health and Environmental SciencesKyoto University Graduate School of MedicineKyotoJapan

Personalised recommendations