Clinical Findings and Outcome of Moyamoya Disease/Syndrome

Yıl 2024, ERKEN GÖRÜNÜMLÜ MAKALELER, 1 - 6

Betül Diler Durgut , Beril Dilber , Tulay Kamasak , Ahmet Sarı , Ali Cansu

https://doi.org/10.12956/tchd.1517440

Öz

Objective: Moyamoya disease is a rare progressive cerebrovascular disorder. It is characterized by progressive stenosis in the terminal branches of the internal carotid arteries, leading to the formation of an abnormal vascular network. The aim of this study was to present the clinical findings and outcomes of pediatric patients diagnosed with Moyamoya disease by analyzing our cohort to identify the common clinical presentations, diagnostic challenges, and treatment outcomes associated with this rare cerebrovascular disorder.

Material and Methods: Nine pediatric cases of Moyamoya disease admitted over a 10-year period were retrospectively reviewed. Clinical presentations, associated diseases, radiological findings, treatments, and outcomes were analyzed.

Results: The median age at diagnosis was 48 months (3-87). Presenting symptoms included hemiparesis in five patients, seizures in six patients, headache in one patient, and choreathetosis with headache in one patient. Three patients experienced symptoms triggered by fever, and one patient by exposure to hot water. Seven patients presented with ischemic symptoms, while two presented with non-ischemic symptoms. Neurofibromatosis type-1 (NF-1) was associated with the disease in four patients. Recurrent attacks occurred in two patients. Interictal electroencephalograms (EEGs) showed hemispheric/focal slowing in five cases. Cranial magnetic resonance imaging (MRI) revealed infarctions in seven patients, and MR angiography showed bilateral findings in six patients. Two patients experienced no long-term sequelae.

Conclusion: Moyamoya disease manifests with both ischemic and non-ischemic symptoms. Recognition of non-ischemic presentations requires a high index of suspicion for accurate diagnosis.

Anahtar Kelimeler

Children, electroencephalogram, moyamoya disease, neuroimaging, stroke

Etik Beyan

Ethical approval was obtained from the Clinical Research Ethics Committee of the University of Health Sciences, Karadeniz Technical University, with approval number 2023/173.

Destekleyen Kurum

None

Teşekkür

None

Moyamoya Hastalığı/Sendromu’nun Klinik Bulguları ve Sonuçları

Öz

Amaç: Moyamoya hastalığı nadir görülen, ilerleyici bir serebrovasküler bozukluktur. İç karotid arterlerin terminal dallarında ilerleyici darlık ile karakterize olup, anormal bir vasküler ağın oluşumuna yol açar. Bu çalışmanın amacı, bu nadir serebrovasküler bozuklukla ilişkili yaygın klinik tabloları, tanısal zorlukları ve tedavi sonuçlarını belirlemek için Moyamoya hastalığı tanısı konan pediatrik hastaların klinik bulgularını ve sonuçlarını sunmaktır.

Gereç ve Yöntemler: On yıllık bir dönemde kabul edilen dokuz pediatrik Moyamoya vakası retrospektif olarak incelendi. Klinik tablolar, ilişkili hastalıklar, radyolojik bulgular, tedaviler ve sonuçlar analiz edildi.

Bulgular: Tanı anında median yaş 48 ay (3-87)’dı. Başvuru semptomları beş hastada hemiparezi, altı hastada nöbet, bir hastada baş ağrısı ve bir hastada koreoatetoz ile baş ağrısı içeriyordu. Üç hasta ateşle tetiklenen semptomlar yaşadı, bir hasta ise sıcak suya maruz kalma ile tetiklenen semptomlar yaşadı. Yedi hasta iskemik semptomlarla, iki hasta ise iskemik olmayan semptomlarla başvurdu. Dört hastada hastalık ile ilişkili olarak Nörofibromatozis tip 1 (NF-1) mevcuttu. İki hastada tekrarlayan ataklar gözlendi. İnteriktal elektroensefalogramlarda (EEG) beş vakada hemisferik/odaksalyavaşlama görüldü. Kraniyal manyetik rezonans görüntüleme (MRI) yedi hastada enfarktüsleri ortaya koydu ve MR anjiyografi altı hastada bilateral bulgular gösterdi. İki hasta uzun dönem sekelsiz kaldı.

Sonuç: Moyamoya hastalığı hem iskemik hem de iskemik olmayan semptomlarla kendini gösterir. İskemik olmayan tabloların tanınması, doğru tanı için yüksek düzeyde şüphe gerektirir.

Anahtar Kelimeler

Çocuklar, elektroensefalogram, Moya-Moya hastalığı, nörogörüntüleme, inme

Kaynakça

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