Turkiye Klinikleri Journal of Pediatrics

.: ORIGINAL RESEARCH
Sturge-Weber Sendromlu Hastalarımızın Nörolojik Özelliklerinin Değerlendirilmesi: Olgu Serisi
Evaluation of Neurological Features of Patients with Sturge-Weber Syndrome: Case Series
Muhittin BODURa , Rabia TÜTÜNCÜ TOKERa
aBursa Uludağ Üniversitesi Tıp Fakültesi, Çocuk Nörolojisi BD, Bursa, Türkiye
Turkiye Klinikleri J Pediatr. 2024;33(1):8-15
doi: 10.5336/pediatr.2023-99742
Article Language: TR
Full Text
ÖZET
 Amaç: Bu çalışmada, Sturge-Weber sendromu tanısı alan olgularımızın nörolojik özelliklerinin literatür bilgileriyle tartışılması amaçlandı. Gereç ve Yöntemler: Bursa Uludağ Üniversitesi Tıp Fakültesi Çocuk Nöroloji Polikliniğinde Ekim 2013-Eylül 2023 tarihleri arasında Sturge-Weber sendromu tanısı alan 12 hastanın dosyaları retrospektif olarak değerlendirildi. Bulgular: Sturge-Weber sendromu tanısı alan 12 hastanın 7'si (%58,3) erkek ve 5'i (%41,7) kızdı. Olguların medyan yaşı 143 ay (minimum: 13, maksimum: 251 ay), ilk başvuru yaşı medyan 15,5 ay (minimum: 0,13-maksimum: 76 ay ) idi. İlk başvuru yakınmalarına bakıldığında 6 (%50) olgu nöbet, 4 (%33,3) olgu yüzde porto şarabı lekesi, 2 (%16,7) olgu nöbet ve yüzde porto şarabı lekesi yakınması ile başvurmuştu. İlk nöbet yaşına bakıldığında nöbet geçiren 10 olgudan 7'si 2 yaş altındaydı. Hastaların beyin manyetik rezonans görüntülemeleri (MRG) değerlendirildiğinde; 3 (%25) olgunun MRG'sinin normal olduğu, 7 (%58,3) olguda leptomeningeal vasküler anomali veya kontrastlanma, 7 (%58,3) olguda serebral parankimal obliterasyon/atrofi, 6 (%50) olguda kortikal/giral kalsifikasyon, 5 (%41,7) olguda transparankimal ven dilatasyonu/genişlemiş venöz yapılar, 2 (%16,7) olguda genişlemiş koroid pleksus, 1 (%8,3) olguda kalınlaşmış kalvaryum saptandı. Sonuç: Sturge-Weber sendromu, beyindeki leptomeningeal vasküler malformasyon, yüzde porto şarabı lekesi ve gözdeki anormal kan damarlarıyla karakterize nadir görülen ancak birçok sistemi etkileyen multisistemik bir hastalıktır.

Anahtar Kelimeler: Sturge-Weber sendromu; porto şarabı lekesi; epilepsi; nöromotor gelişim; manyetik rezonans görüntüleme
ABSTRACT
 Objective: In this study, we aimed to discuss the neurological characteristics of our cases diagnosed with Sturge-Weber Syndrome with literature information. Material and Methods: The files of 12 patients diagnosed with Sturge-Weber syndrome between October 2013 and September 2023 at Bursa Uludağ University Faculty of Medicine Child Neurology Clinic were retrospectively evaluated. Results: Of the 12 patients diagnosed with Sturge-Weber syndrome, 7 (58.3%) were boys and 5 (41.7%) were girls. The median age of the cases was 143 months (minimum: 13, maximum: 251 months), and the median age at first presentation was 15.5 months (minimum: 0.13-maximum: 76 months). Considering the complaints at first admission, 6 (50%) cases presented with seizures, 4 cases complained of facial spots (33.3%), and 2 (16.7%) cases presented with seizures and facial spots. Considering the age of the first seizure, 7 out of 10 cases with seizures were under two years old. When the brain magnetic resonance imagines (MRI) of the patients were evaluated, MRIs in 3 (25%) cases were normal, leptomeningeal vascular anomaly or contrast enhancement in 7 (58.3%) cases, cerebral parenchymal obliteration/atrophy in 7 (58.3%) cases, cortical/gyral abnormalities in 6 (50%) cases. Calcification, transparenchymal vein dilatation/enlarged venous structures in 5 (41.7%) cases, enlarged choroid plexus in 2 (16.7%) cases, and thickened calvarium in 1 (8.3%) case were detected. Conclusion: SturgeWeber syndrome is a rare but multisystemic disease that affects many systems, characterized by leptomeningeal vascular malformation in the brain, port wine birthmark, and abnormal blood vessels in the eye.

Keywords: Sturge-Weber syndrome; port-wine stain; epilepsy; neuromotor development; magnetic resonance imaging
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