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European Radiology
Published in: European Radiology 8/2016

01-08-2016 | Paediatric

Early-onset stroke with moyamoya-like syndrome and extraneurological signs: a first reported paediatric series

Authors: Bruno Law-ye, Guillaume Saliou, Frédérique Toulgoat, Marc Tardieu, Kumaran Deiva, Catherine Adamsbaum, Béatrice Husson

Published in: European Radiology | Issue 8/2016

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Abstract

Background

Moyamoya syndrome is characterised by an occlusion of the carotid terminations with the development of collateral vessels. Our objective is to describe a series of infants presenting early-onset moyamoya-like syndrome, which may constitute a distinct entity.

Methods

From a cohort of children with rare cerebral vascular pathologies, we studied eight infants (28 days–1 year) with early-onset moyamoya-like syndrome demonstrated by angiography. We retrospectively analysed the patterns on MRI and MRA, as well as all other available data.

Results

Median age at diagnosis was 7 months (IQR: 6–8) with arterial ischaemic stroke in the middle cerebral artery territory. All of the children experienced severe stroke recurrence within a median time of 11 months (IQR: 10–12), and all showed extraneurological symptoms. The anterior cerebral circulation was involved in all cases and the posterior circulation was involved in six. Two children died and all of the other children suffered permanent neurological deficits.

Conclusions

The presence of extraneurological signs in cases of early-onset moyamoya syndrome is suggestive of a newly described systemic vasculopathy with predominantly cerebrovascular expression. Given its rapid progression marked by severe recurrent strokes and poor clinical outcome, early diagnosis could help in the decision to institute aggressive therapy.
Literature
1.
Fukui M (1997) Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis (’moyamoya’ disease). Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan. Clin Neurol Neurosurg 99:S238–S240CrossRefPubMed
2.
Fukui M, Kono S, Sueishi K, Ikezaki K (2000) Moyamoya disease. Neuropathol Off J Jpn Soc Neuropathol 20:S61–S64CrossRef
3.
Kataoka H, Miyamoto S, Nagata I, Hatano T, Kano H, Hashimoto N (1999) Moyamoya disease showing atypical angiographic findings—two case reports. Neurol Med Chir (Tokyo) 39:294–298CrossRef
4.
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M (2015) Moyamoya disease and syndromes: from genetics to clinical management. Appl Clin Genet 8:49–68PubMedPubMedCentral
5.
Horn P, Pfister S, Bueltmann E, Vajkoczy P, Schmiedek P (2004) Moyamoya-like vasculopathy (moyamoya syndrome) in children. Childs Nerv Syst ChNS Off J Int Soc Pediatr Neurosurg 20:382–391CrossRef
6.
Sasaki T, Nogawa S, Amano T (2006) Co-morbidity of moyamoya disease with Graves’ disease. report of three cases and a review of the literature. Intern Med Tokyo Jpn 45:649–653CrossRef
7.
Tokimura H, Tajitsu K, Takashima H, Hirayama T, Tsuchiya M, Takayama K et al (2010) Familial moyamoya disease associated with Graves’ disease in a mother and daughter. Two case reports. Neurol Med Chir (Tokyo) 50:668–674CrossRef
8.
Houkin K, Yoshimoto T, Kuroda S, Ishikawa T, Takahashi A, Abe H (1996) Angiographic analysis of moyamoya disease--how does moyamoya disease progress? Neurol Med Chir (Tokyo) 36:783–787, discussion 788CrossRef
9.
Amlie-Lefond C, Zaidat OO, Lew SM (2011) Moyamoya disease in early infancy: case report and literature review. Pediatr Neurol 44:299–302CrossRefPubMed
10.
Harrison JK, McArthur KS, Quinn TJ (2013) Assessment scales in stroke: clinimetric and clinical considerations. Clin Interv Aging 8:201–211PubMedPubMedCentral
11.
Nassaf M, Draiss G, Rada N, Bourrous M, Bouskraoui M (2012) Moyamoya disease in children: a case report. Arch Pédiatrie Organe Off Sociéte Fr Pédiatrie 19:493–496CrossRef
12.
Ahmed R, Ahsan H (1997) Imaging of Moya Moya disease. JPMA J Pak Med Assoc 47:181–185PubMed
13.
Manceau E, Giroud M, Dumas R (1997) Moyamoya disease in children. A review of the clinical and radiological features and current treatment. Childs Nerv Syst ChNS Off J Int Soc Pediatr Neurosurg 13:595–600CrossRef
14.
Funaki T, Takahashi JC, Takagi Y, Yoshida K, Araki Y, Kikuchi T et al (2013) Impact of posterior cerebral artery involvement on long-term clinical and social outcome of pediatric moyamoya disease. J Neurosurg Pediatr 12:626–632CrossRefPubMed
15.
Kuroda S, Ishikawa T, Houkin K, Iwasaki Y (2002) Clinical significance of posterior cerebral artery stenosis/occlusion in moyamoya disease. No Shinkei Geka 30:1295–1300PubMed
16.
Miyamoto S, Kikuchi H, Karasawa J, Nagata I, Ikota T, Takeuchi S (1984) Study of the posterior circulation in moyamoya disease. Clinical and neuroradiological evaluation. J Neurosurg 61:1032–1037CrossRefPubMed
17.
Tamogami R, Oi S, Nonaka Y, Miwa T, Abe T (2010) Clinical prognosis and therapeutic aspects in management of pediatric moyamoya disease. Nihon Rinsho Jpn J Clin Med 68:45–52
18.
Currie S, Raghavan A, Batty R, Connolly DJA, Griffiths PD (2011) Childhood moyamoya disease and moyamoya syndrome: a pictorial review. Pediatr Neurol 44:401–413CrossRefPubMed
19.
Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A et al (2011) A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 56:34–40CrossRefPubMed
20.
Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T et al (2011) Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 6, e22542CrossRefPubMedPubMedCentral
21.
Wu Z, Jiang H, Zhang L, Xu X, Zhang X, Kang Z et al (2012) Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population. PLoS One 7, e48179CrossRefPubMedPubMedCentral
22.
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I et al (2012) Homozygous c.14576G > A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology 78:803–810CrossRefPubMed
23.
Mineharu Y, Takagi Y, Takahashi JC, Hashikata H, Liu W, Hitomi T et al (2013) Rapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variant. Cerebrovasc Dis Basel Switz 36:155–157CrossRef
24.
Morito D, Nishikawa K, Hoseki J, Kitamura A, Kotani Y, Kiso K et al (2014) Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state. Sci Rep 4:4442CrossRefPubMedPubMedCentral
25.
Buerki S, Steinlin M (2013) Coexistent childhood renovascular and cerebrovascular disease. Dev Med Child Neurol 55:297–298CrossRefPubMed
26.
Willsher A, Roebuck DJ, Ng J, Ganesan V (2013) How commonly do children with complex cerebral arteriopathy have renovascular disease? Dev Med Child Neurol 55:335–340CrossRefPubMed
27.
Richard MA, Grob JJ, Durand JM, Noë C, Basseres N, Bonerandi JJ (1994) Sneddon syndrome. Ann Dermatol Vénéréologie 121:331–337
28.
29.
Legierse CM, Canninga-Van Dijk MR, Bruijnzeel-Koomen CAFM, Kuck-Koot VCM (2008) Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. Eur J Dermatol EJD 18:322–328PubMed
30.
Zaccariotti VA, Martins LF, da Costa V, Silva NA, da Casas AA, de Melo-Souza SE (1995) Sneddon syndrome. Report of 3 cases. Arq Neuropsiquiatr 53:82–87CrossRefPubMed
31.
Maamar M, Rahmani M, Aidi S, Benabdeljlil M, El Hassani My R, Jiddane M et al (2007) Sneddon’s syndrome: 15 cases with cerebral angiography. Rev Neurol (Paris) 163:809–816CrossRef
32.
Provenzale JM, Barboriak DP, Allen NB, Ortel TL (1998) Antiphospholipid antibodies: findings at arteriography. AJNR Am J Neuroradiol 19:611–616PubMed
33.
Pomper MG, Miller TJ, Stone JH, Tidmore WC, Hellmann DB (1999) CNS vasculitis in autoimmune disease: MR imaging findings and correlation with angiography. AJNR Am J Neuroradiol 20:75–85PubMed
34.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV et al (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 370:911–920CrossRefPubMedPubMedCentral
35.
Kotagal S, Peterson PL, Martens ME, Lee CP, Nigro M, Archer CR (1988) Impaired NADH-CoQ reductase activity in a child with moyamoya syndrome. Pediatr Neurol 4:241–244CrossRefPubMed
36.
Cullu N, Karakas E, Karakas O, Deveer M, Calik M, Boyaci FN (2013) Childhood moyamoya disease accompanying Leigh syndrome. JPMA J Pak Med Assoc 63:1538–1540PubMed
37.
Marcinkevicius E, Liutkus D, Gvazdaitis A (2006) Experience of treatment of moyamoya disease at the Clinic of Neurosurgery of Kaunas University of Medicine. Med Kaunas Lith 42:130–136
38.
Kim S-K, Seol HJ, Cho B-K, Hwang Y-S, Lee DS, Wang K-C (2004) Moyamoya disease among young patients: its aggressive clinical course and the role of active surgical treatment. Neurosurgery 54:840–844, discussion 844–846CrossRefPubMed
39.
Imaizumi T, Hayashi K, Saito K, Osawa M, Fukuyama Y (1998) Long-term outcomes of pediatric moyamoya disease monitored to adulthood. Pediatr Neurol 18:321–325CrossRefPubMed
40.
Jackson EM, Lin N, Manjila S, Scott RM, Smith ER (2014) Pial synangiosis in patients with moyamoya younger than 2 years of age. J Neurosurg Pediatr 13:420–425CrossRefPubMed
Metadata
Title
Early-onset stroke with moyamoya-like syndrome and extraneurological signs: a first reported paediatric series
Authors
Bruno Law-ye
Guillaume Saliou
Frédérique Toulgoat
Marc Tardieu
Kumaran Deiva
Catherine Adamsbaum
Béatrice Husson
Publication date
01-08-2016
Publisher
Springer Berlin Heidelberg
Published in
European Radiology / Issue 8/2016
Print ISSN: 0938-7994
Electronic ISSN: 1432-1084
DOI
https://doi.org/10.1007/s00330-015-4119-z

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