Advertisement

A rare case of pediatric moyamoya disease with reversible white matter lesions in a 3-year-old Chinese girl

  • Shi-Jun Li
  • Jie Xiong
  • Yu He
  • Yang-Yang Xiao
  • Ding-An Mao
  • Li-Qun LiuEmail author
Case Report
  • 30 Downloads

Abstract

Moyamoya disease is a chronic cerebral vascular disease characterized by progressive occlusion of the cerebral arteries and resulting in the development of abnormal collateral circulation. We report a case of moyamoya disease in a 3-year-old Chinese girl with partly reversible white matter lesions. This case indicates that, in pediatric moyamoya disease, white matter lesions may be associated with cerebral ischemia, and they may be reversible after treatment.

Keywords

Moyamoya disease Intermittent mental abnormality White matter lesion Collateral circulation 

Abbreviations

MMD

Moyamoya disease

MRA

magnetic resonance angiography

DSA

digital substraction angiography

DWI

diffusion-weighted imaging

MRI

magnetic resonance imaging

FLAIR

fluid attenuated inversion recovery

SWI

susceptibility-weighted imaging

MRS

magnetic resonance spectroscopy

CBF

cerebral blood flow

Notes

Compliance with ethical standards

Conflict of interest

Th authors declare that they have no conflict of interest.

References

  1. 1.
    Takeuchi K, Shimizu K (1957) Hypoplasia of the bilateral internal carotid arteries. Brain Nerve 9:37–43Google Scholar
  2. 2.
    Piao J, Wu W, Yang Z (2015) Research progress of moyamoya disease in children. Int J Med Sci 12:566–575CrossRefGoogle Scholar
  3. 3.
    Fujimura M, Tominaga T (2015) Diagnosis of moyamoya disease: international standard and regional differences. Neurol Med Chir (Tokyo) 55:189–193CrossRefGoogle Scholar
  4. 4.
    Liao X, Deng J, Dai W, Zhang T, Yan J (2017) Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review. Environ Health Prev Med 22:75CrossRefGoogle Scholar
  5. 5.
    Morimoto T, Enmi JI, Hattori Y, Iguchi S, Saito S, Harada KH, Okuda H, Mineharu Y, Takagi Y, Youssefian S, Iida H, Miyamoto S, Ihara M, Kobayashi H, Koizumi A (2018) Dysregulation of RNF213 promotes cerebral hypoperfusion. Sci Rep 8:3607CrossRefGoogle Scholar
  6. 6.
    Kim WH, Kim SD, Nam MH, Jung JM, Jin SW, Ha SK, Lim DJ, Lee HB (2019) Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism. Childs Nerv Syst 35:309–314CrossRefGoogle Scholar
  7. 7.
    Matsuda Y, Mineharu Y, Kimura M, Takagi Y, Kobayashi H, Hitomi T, Harada KH, Uchihashi Y, Funaki T, Miyamoto S, Koizumi A (2017) RNF213 p.R4810K variant and intracranial arterial stenosis or occlusion in relatives of patients with moyamoya disease. J Stroke Cerebrovasc Dis 26:1841–1847CrossRefGoogle Scholar
  8. 8.
    Zhang Q, Liu Y, Zhang D, Wang R, Zhang Y, Wang S, Yu L, Lu C, Liu F, Zhou J, Zhang X, Zhao J (2017) RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance. J Neurosurg 126:1106–1113CrossRefGoogle Scholar
  9. 9.
    Kim EH, Yum MS, Ra YS, Park JB, Ahn JS, Kim GH, Goo HW, Ko TS, Yoo HW (2016) Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease. J Neurosurg 124:1221–1227CrossRefGoogle Scholar
  10. 10.
    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) Identifcation of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 6:e22542CrossRefGoogle Scholar
  11. 11.
    Ernst M, Boers AMM, Forkert ND, Berkhemer OA, Roos YB, Dippel DWJ, Van der Lugt A, Van Oostenbrugge RJ, Van Zwam WH, Vettorazzi E, Fiehler J, Marquering HA, Majoie CBLM, Gellissen S (2018) Impact of ischemic lesion location on the mRS score in patients with ischemic stroke: a voxel-based approach. AJNR Am J Neuroradiol 39:1989–1994CrossRefGoogle Scholar
  12. 12.
    Von Rennenberg R, Siegerink B, Ganeshan R, Villringer K, Doehner W, Audebert HJ, Endres M, Nolte CH, Scheitz JF (2019) High-sensitivity cardiac troponin T and severity of cerebral white matter lesions in patients with acute ischemic stroke. J Neurol 266:37–45CrossRefGoogle Scholar
  13. 13.
    Haussen DC, Lima A, Frankel M, Anderson A, Belagaje S, Nahab F, Rangaraju S, Nogueira RG (2015) Sulcal effacement with preserved gray-white junction: a sign of reversible ischemia. Stroke 46:1704–1706CrossRefGoogle Scholar
  14. 14.
    Holmegaard L, Jensen C, Redfors P, Blomstrand C, Jern C, Jood K (2018) Long-term progression of white matter hyperintensities in ischemic stroke. Acta Neurol Scand 138:548–556CrossRefGoogle Scholar
  15. 15.
    Tamura G, Ihara S, Morota N (2016) Reversible diffusion weighted imaging hyperintensities during the acute phase of ischemic stroke in pediatric moyamoya disease: a case report. Childs Nerv Syst 32:1531–1535CrossRefGoogle Scholar
  16. 16.
    Hara S, Hori M, Inaji M, Maehara T, Aoki S, Nariai T (2018) Regression of white matter hyperintensity after indirect bypass surgery in a patient with moyamoya disease. Magnetic Resonance in Medical Sciences.  https://doi.org/10.2463/mrms.ci.2018-0088 CrossRefGoogle Scholar
  17. 17.
    Kim TK, Eun BL, Cha SH, Chung KB, Kim JH, Kim BH, Chung HH (2003) Moyamoya disease in a child with previous acute necrotizing encephalopathy. Pediatr Radiol 33:644–647CrossRefGoogle Scholar
  18. 18.
    Sasannejad P, Rezaei F, Bidaki R, Zarepur E (2018) Rare presentation of moyamoya disease with subacute presentation in Iran. Iran J Child Neurol 12:89–93PubMedPubMedCentralGoogle Scholar
  19. 19.
    Li Y, Gor D, Walicki D, Jenny D, Jones D, Barbour P, Castaldo J (2012) Spectrum and potential pathogenesis of reversible posterior leukoencephalopathy syndrome. J Stroke Cerebrovasc Dis 21:873–882CrossRefGoogle Scholar
  20. 20.
    Tashiro R, Fujimura M, Mugikura S, Niizuma K, Endo H, Endo T, Tominaga T (2018) Paradoxical association of symptomatic local vasogenic edema with global cerebral hypoperfusion after direct revascularization surgery for adult moyamoya disease. J Stroke Cerebrovasc Dis 27:e172–e176CrossRefGoogle Scholar
  21. 21.
    Komori A, Mizu D, Ariyoshi K (2018) Posterior reversible encephalopathy syndrome: a rare childhood case with unconsciousness. J Emerg Med 54:540–543CrossRefGoogle Scholar
  22. 22.
    Chen HA, Lin YJ, Chen PC, Chen TY, Lin KC, Cheng HH (2010) Systemic lupus erythematosus complicated with posterior reversible encephalopathy syndrome and intracranial vasculopathy. Int J Rheum Dis 13:e79–e82CrossRefGoogle Scholar
  23. 23.
    Guggenberger K, Urbach H (2018) MRI alterations in immunomodulation. Nervenarzt 89:945–957CrossRefGoogle Scholar
  24. 24.
    Hamano E, Kataoka H, Morita N, Maruyama D, Satow T, Iihara K, Takahashi JC (2017) Clinical implication of the cortical hyper intensity belt sign in fluid-attenuated inversion recovery images after bypass surgery for moyamoya disease. J MNeurosurg 126:1–7CrossRefGoogle Scholar
  25. 25.
    Takanashi J (2011) Moyamoya disease in children. Brain and Development 33:229–234CrossRefGoogle Scholar
  26. 26.
    Bedini G, Blecharz KG, Nava S, Vajkoczy P, Alessandri G, Ranieri M, Acerbi F, Ferroli P, Riva D, Esposito S, Pantaleoni C, Nardocci N, Zibordi F, Ciceri E, Parati EA, Bersano A (2016) Vasculogenic and angiogenic pathways in moyamoya disease. Curr Med Chem 23:315–345CrossRefGoogle Scholar
  27. 27.
    Research committee on the pathology and treatment of spontaneous occlusion of the circle of Willis (2012) Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis). Neuro Med Chir (Tokyo) 52:245–266CrossRefGoogle Scholar
  28. 28.
    Smith ER, Scott M (2012) Spontaneous occlusion of the circle of Willis in children:pediatric moyamoya summary with proposed evidence-based practice guidelines. J Neurosurg Pediatrics 9:353–360CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Pediatrics, the Second Xiangya HospitalCentral South UniversityChangshaChina
  2. 2.Department of Radiology, the Second Xiangya HospitalCentral South UniversityChangshaChina

Personalised recommendations