Sturge Weber Sendromlu Çocuk Hastalarda Radyolojik Bulgular

Ayşe Gül Alımlı; Şükriye Yılmaz; Ayşe Özdemir Gökce; Nefise Arıbaş Öz

doi:10.12956/tchd.594651

Research Article

Sturge Weber Sendromlu Çocuk Hastalarda Radyolojik Bulgular

Year 2020, Volume: 14 Issue: 1, 57 - 65, 27.01.2020

Ayşe Gül Alımlı , Şükriye Yılmaz , Ayşe Özdemir Gökce , Nefise Arıbaş Öz

https://doi.org/10.12956/tchd.594651

Abstract

Özet

Amaç: Çocuk hastalarda Sturge Weber Sendromu’nun radyolojik
bulgularını klinik bulgular eşliğinde tartışıp, SWS düşünülen hastaların erken
dönemde tanı almasına katkı sağlamaktır.

Gereç ve Yöntemler: Hastanemizde Ocak 2010-Şubat 2019 tarihleri arasında SWS tanısı ile
Beyin Bilgisayarlı Tomografi ya da Kranial Manyetik
Rezonans Görüntüleme tetkiki yapılan 15 hasta çalışmaya dahil edilmiştir.
Hastaların radyolojik tetkikleri iki pediatrik radyolog tarafından geriye dönük
olarak değerlendrilmiştir. Hastaların demografik bilgilerine ve klinik
bulgularına dosya arşivinden ulaşılmıştır.

Bulgular: 2 -185 ay
aralığında (74,07 ±74,08 ay) ; 9 kız, 6 erkek hasta değerlendirildi. En sık
başvuru yakınması nöbet (%40) ve yüzde leke (26,66) idi. Bir hastada bilateral olmak üzere
toplamda dokuz hastada (%60) SWS ile
uyumlu radyolojik bulgu izlendi. Bu hastalardan kontrastlı tetkiki olan 7
hastada(%100) leptomeningeal kontrastlanma ve manyetik duyarlı MRG tetkiki
mevcut olan 7 hastada (%100) ve BT tetkiki olan 2 hastada kalsifikasyon
alanları mevcuttu. Fokal tutulumu olan bir hasta dışında tüm hastalarda
transmedüller ve kortikal venlerde belirginleşme izlendi. Patolojik hemisferde
ADC değerlerinde azalma mevcuttu. Hiçbir hastada akselere myelinasyon/beyaz
cevher inversiyonu, diffüzyon
kısıtlaması saptanmadı.

Sonuç: SWS
nadir sporadik nörokutanöz bir sendrom olup klinik ve radyolojik olarak tipik
bulguları vardır. Kontrastlı MRG pial anjiomların tanısında en duyarlı yöntem
olmakla birlikte manyetik duyarlı MRG kalsifikasyonların
ve belirginleşmiş venöz kollaterallerin saptanmasında katkı sağlayabilir.

Keywords

Çocuk, epilepsi, MRG, manyetik duyarlı MRG, nöroradyoloji

References

1. Bar C, Pedespan JM, Boccara O, Garcelon N, Levy R, Grévent D, Boddaert N, Nabbout R. Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. Dev Med Child Neurol. 2019 May 3. doi:10.1111/dmcn.14253.
2. Pinto AL, Chen L, Friedman R, Grant PE, Poduri A, Takeoka M, Prabhu SP, Sahin M. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 May;58:25-30. doi: 10.1016/j.pediatrneurol.2015.11.005.
3. Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971- 1979.
4. Nakashima M, Miyajima M, Sugano H, et al. The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet. 2014;59(12):691-693.
5. Balkuv E, Isik N, Canturk IA, Isik N, Basaran R. Sturge-weber syndrome: a case report with persistent headache. Pan Afr Med J. 2014 May 26;18:87. doi:10.11604/pamj.2014.18.87.3346.
6. Ergün R, Okten AI, Gezercan Y, Gezici AR. Sturge-Weber syndrome accompanied with multiple congenital intracranial lesions. Acta Neurochir (Wien). 2007 Aug;149(8):829-30; discussion 830.
7. Comi AM. Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist. 2011;17(4):179- 184.
8. Pinto ALR, Ou Y, Sahin M, Grant PE. Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. Pediatr Neurol. 2018 Jul;84:32-38. doi: 10.1016/j.pediatrneurol.2018.04.004.
9. Jacoby CG, Yuh WT, Afifi AK, Bell WE, Schelper RL, Sato Y. Accelerated myelination in early Sturge-Weber syndrome demonstrated by MR imaging. J Comput Assist Tomogr. 1987 Mar-Apr;11(2):226-31.
10. Nakata Y, Yagishita A, Tsuchiya K. Imaging of Sturge-Weber syndrome: cranial CT and MR findings. Nihon Igaku Hoshasen Gakkai Zasshi. 2004;64(4):210-5.
11. Juhász C, Haacke EM, Hu J, Xuan Y, Makki M, Behen ME, Maqbool M, Muzik O, Chugani DC, Chugani HT. Multimodality imaging of cortical and white matter abnormalities in Sturge-Weber syndrome. AJNR Am J Neuroradiol. 2007 May;28(5):900-6.
12. Canpolat, M., Hüseyin, P. E. R., YIKILMAZ, A., Gümüş, H., Özcan, A., Poyrazoğlu, H. G.& Kumandaş, S. Sturge-Weber sendromu; klinik ve radyolojik değerlendirme. Gaziantep Medical Journal, 19(1), 30-34.
13. Comi AM. Sturge-Weber syndrome. Handb Clin Neurol. 2015;132:157-68. doi: 10.1016/B978-0-444-62702-5.00011-1.
14. Nabbout R, Juhasz C. Sturge-Weber syndrome. Handb Clin Neurol. 2013;111:315-321.
15. Fogarasi A, Loddenkemper T, Mellado C, et al. Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 2013;66(1-2):53-57.
16. Lee JS, Asano E, Muzik O, et al. Sturge-Weber syndrome: correlation between clinical course and FDG PET findings. Neurology 2001;57:189–95
17. Mentzel HJ, Dieckmann A, Fitzek C, et al. Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography. Pediatr Radiol 2005;35:85–90
18. Gumus K, Koc G, Doganay S, Gorkem SB, Dogan MS, Canpolat M, Coskun A, Bilgen M. Susceptibility-Based Differentiation of Intracranial Calcification and Hemorrhage in Pediatric Patients. J Child Neurol. 2015 Jul;30(8):1029-36. doi: 10.1177/0883073814552439.
19. Pilli VK, Behen ME, Hu J, Xuan Y, Janisse J, Chugani HT, Juhász C. Clinical and metabolic correlates of cerebral calcifications in Sturge-Weber syndrome. Dev Med Child Neurol. 2017 Sep;59(9):952-958. doi: 10.1111/dmcn.13433.
20. Piram M, Lorette G, Sirinelli D, Herbreteau D, Giraudeau B, Maruani A. Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol 2012; 29: 32–7.
21. Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995; 10: 49–58.
22. Ratra D, Yadav H, Dalan D, Sodhi PKS, Ratra V. Retinal vascular abnormalities in Sturge-Weber syndrome. Indian J Ophthalmol. 2019 Jul;67(7):1223-1226. doi: 10.4103/ijo.IJO_1840_18.
23. Steinbok P, Gan PY, Connolly MB, Carmant L, Barry Sinclair D, Rutka J, Griebel R, Aronyk K, Hader W, Ventureyra E, Atkinson J. Epilepsy surgery in the first 3 years of life: a Canadian survey. Epilepsia. 2009; 50(6):1442-9.

Year 2020, Volume: 14 Issue: 1, 57 - 65, 27.01.2020

Ayşe Gül Alımlı , Şükriye Yılmaz , Ayşe Özdemir Gökce , Nefise Arıbaş Öz

https://doi.org/10.12956/tchd.594651

Abstract

References

1. Bar C, Pedespan JM, Boccara O, Garcelon N, Levy R, Grévent D, Boddaert N, Nabbout R. Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. Dev Med Child Neurol. 2019 May 3. doi:10.1111/dmcn.14253.
2. Pinto AL, Chen L, Friedman R, Grant PE, Poduri A, Takeoka M, Prabhu SP, Sahin M. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 May;58:25-30. doi: 10.1016/j.pediatrneurol.2015.11.005.
3. Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971- 1979.
4. Nakashima M, Miyajima M, Sugano H, et al. The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet. 2014;59(12):691-693.
5. Balkuv E, Isik N, Canturk IA, Isik N, Basaran R. Sturge-weber syndrome: a case report with persistent headache. Pan Afr Med J. 2014 May 26;18:87. doi:10.11604/pamj.2014.18.87.3346.
6. Ergün R, Okten AI, Gezercan Y, Gezici AR. Sturge-Weber syndrome accompanied with multiple congenital intracranial lesions. Acta Neurochir (Wien). 2007 Aug;149(8):829-30; discussion 830.
7. Comi AM. Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist. 2011;17(4):179- 184.
8. Pinto ALR, Ou Y, Sahin M, Grant PE. Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. Pediatr Neurol. 2018 Jul;84:32-38. doi: 10.1016/j.pediatrneurol.2018.04.004.
9. Jacoby CG, Yuh WT, Afifi AK, Bell WE, Schelper RL, Sato Y. Accelerated myelination in early Sturge-Weber syndrome demonstrated by MR imaging. J Comput Assist Tomogr. 1987 Mar-Apr;11(2):226-31.
10. Nakata Y, Yagishita A, Tsuchiya K. Imaging of Sturge-Weber syndrome: cranial CT and MR findings. Nihon Igaku Hoshasen Gakkai Zasshi. 2004;64(4):210-5.
11. Juhász C, Haacke EM, Hu J, Xuan Y, Makki M, Behen ME, Maqbool M, Muzik O, Chugani DC, Chugani HT. Multimodality imaging of cortical and white matter abnormalities in Sturge-Weber syndrome. AJNR Am J Neuroradiol. 2007 May;28(5):900-6.
12. Canpolat, M., Hüseyin, P. E. R., YIKILMAZ, A., Gümüş, H., Özcan, A., Poyrazoğlu, H. G.& Kumandaş, S. Sturge-Weber sendromu; klinik ve radyolojik değerlendirme. Gaziantep Medical Journal, 19(1), 30-34.
13. Comi AM. Sturge-Weber syndrome. Handb Clin Neurol. 2015;132:157-68. doi: 10.1016/B978-0-444-62702-5.00011-1.
14. Nabbout R, Juhasz C. Sturge-Weber syndrome. Handb Clin Neurol. 2013;111:315-321.
15. Fogarasi A, Loddenkemper T, Mellado C, et al. Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 2013;66(1-2):53-57.
16. Lee JS, Asano E, Muzik O, et al. Sturge-Weber syndrome: correlation between clinical course and FDG PET findings. Neurology 2001;57:189–95
17. Mentzel HJ, Dieckmann A, Fitzek C, et al. Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography. Pediatr Radiol 2005;35:85–90
18. Gumus K, Koc G, Doganay S, Gorkem SB, Dogan MS, Canpolat M, Coskun A, Bilgen M. Susceptibility-Based Differentiation of Intracranial Calcification and Hemorrhage in Pediatric Patients. J Child Neurol. 2015 Jul;30(8):1029-36. doi: 10.1177/0883073814552439.
19. Pilli VK, Behen ME, Hu J, Xuan Y, Janisse J, Chugani HT, Juhász C. Clinical and metabolic correlates of cerebral calcifications in Sturge-Weber syndrome. Dev Med Child Neurol. 2017 Sep;59(9):952-958. doi: 10.1111/dmcn.13433.
20. Piram M, Lorette G, Sirinelli D, Herbreteau D, Giraudeau B, Maruani A. Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol 2012; 29: 32–7.
21. Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995; 10: 49–58.
22. Ratra D, Yadav H, Dalan D, Sodhi PKS, Ratra V. Retinal vascular abnormalities in Sturge-Weber syndrome. Indian J Ophthalmol. 2019 Jul;67(7):1223-1226. doi: 10.4103/ijo.IJO_1840_18.
23. Steinbok P, Gan PY, Connolly MB, Carmant L, Barry Sinclair D, Rutka J, Griebel R, Aronyk K, Hader W, Ventureyra E, Atkinson J. Epilepsy surgery in the first 3 years of life: a Canadian survey. Epilepsia. 2009; 50(6):1442-9.

There are 23 citations in total.

Details

Primary Language	Turkish
Subjects	Internal Diseases
Journal Section	ORIGINAL ARTICLES
Authors	Ayşe Gül Alımlı 0000-0002-4339-4236 Şükriye Yılmaz 0000-0002-5777-6147 Ayşe Özdemir Gökce 0000-0003-4550-6032 Nefise Arıbaş Öz This is me 0000-0002-9627-9127
Publication Date	January 27, 2020
Submission Date	July 24, 2019
Published in Issue	Year 2020 Volume: 14 Issue: 1

Cite

Vancouver	Alımlı AG, Yılmaz Ş, Özdemir Gökce A, Arıbaş Öz N. Sturge Weber Sendromlu Çocuk Hastalarda Radyolojik Bulgular. Türkiye Çocuk Hast Derg. 2020;14(1):57-65.

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