Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner
Syndrome: Two Case Reports and Literature Review

saygi, serap; ÜTİNE, Eda; Arslan, Doruk

doi:10.4103/nsn.nsn_37_21

Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review

Doruk ARSLAN, (Hacettepe Üniversitesi, Nöroloji Bölümleri ve Pediatrik Genetik Tıp Okulu, Ankara, Türkiye)

Eda ÜTİNE, (Hacettepe Üniversitesi, Nöroloji Bölümleri ve Pediatrik Genetik Tıp Okulu, Ankara, Türkiye)

Serap SAYGI (Hacettepe Üniversitesi, Nöroloji Bölümleri ve Pediatrik Genetik Tıp Okulu, Ankara, Türkiye)

Neurological sciences and neurophysiology (Online)

3 0

Yıl: 2021 Cilt: 38 Sayı: 3 Sayfa Aralığı: 194 - 198 Metin Dili: İngilizce DOI: 10.4103/nsn.nsn_37_21 İndeks Tarihi: 11-06-2022

Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review

Öz:

Turner syndrome (TS) is one of the most common sex chromosome abnormalities in women, but there are only a few case reports of patients with TS who have epilepsy or seizures. Here, we report two additional cases with drug‑resistant temporal lobe epilepsy (TLE) and TS mosaicism. Patient #1 is a 22‑year‑old female with drug‑resistant TLE whose karyotype analysis showed that 84% of interphase cells had (45,X) genotype and brain magnetic resonance imaging (MRI) initially reported as normal showed developmental left temporal lobe encephalocele. She underwent left temporal lobectomy, and she is seizure free for 10‑year postoperative follow‑up period. Patient #2 is a 49‑year‑old female who has TLE with normal brain MRI. The karyotype analysis showed that 2/30 of metaphase cells had (45, X) genotype. In addition, 11 cases of epilepsy associated with TS were determined through PubMed. The clinical characteristics of all are reviewed.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

1. Ranke MB, Saenger P. Turner’s syndrome. Lancet 2001;358:309‑14.
2. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med 2004;351:1227‑38.
3. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017;177:G1‑70.
4. Bartocci A, Striano P, Mancardi MM, Fichera M, Castiglia L, Galesi O,et al. Partial monosomy Xq(Xq23 ‑‑> qter) and trisomy 4p(4p15.33 ‑‑> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features. Brain Dev 2008;30:425‑9.
5. Jhang KM, Chang TM, Chen M, Liu CS. Generalized epilepsy in a patient with mosaic Turner syndrome: A case report. J Med Case Rep 2014;8:109.
6. Joost K, Tammur P, Teek R, Zilina O, Peters M, Kreile M,et al. Whole Xp deletion in a girl with mental retardation, epilepsy, and biochemical features of OTC deficiency. Mol Syndromol 2011;1:311‑5.
7. Puusepp H, Zordania R, Paal M, Bartsch O, Ounap K. Girl with partial Turner syndrome and absence epilepsy. Pediatr Neurol 2008;38:289‑92.
8. Terao Y, Hashimoto K, Nukina N, Mannen T, Shinohara T. Cortical dysgenesis in a patient with Turner mosaicism. Dev Med Child Neurol 1996;38:455‑60.
9. Tombini M, Marciani MG, Romigi A, Izzi F, Sperli F, Bozzao A, et al. Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: A case report. J Neurol Sci 2003;213:83‑6.
10. Vulliemoz S, Dahoun S, Seeck M. Bilateral temporal lobe epilepsy in a patient with Turner syndrome mosaicism. Seizure 2007;16:261‑5.
11. Magara S, Kawashima H, Kobayashi Y, Akasaka N, Yamazaki S, Tohyama J. Rub epilepsy in an infant with Turner syndrome. Brain Dev 2015;37:725‑8.
12. Striano S, Striano P, Tortora F, Elefante A. Intractable epilepsy in Turner syndrome associated with bilateral perisylvian hypoplasia: One case report. Clin Neurol Neurosurg 2005;108:56‑9.
13. Zeng YJ, Yang XS, Tian FF, Xiao L, Liu W, Yang X. A case of Tunner syndrome combined with epilepsy. Zhong Nan Da Xue Xue Bao Yi Xue Ban 2004;29:364.
14. Zhao H, Lian YJ. Epilepsy associated with Turner syndrome. Neurol India 2015;63:631‑3.
15. Tsuboi T, Nielsen J. Electroencephalographic examination of 64 Danish Turner girls. Acta Neurol Scand 1985;72:590‑601.
16. Grosso S, Farnetani MA, Di Bartolo RM, Berardi R, Pucci L, Mostardini R, et al. Electroencephalographic and epileptic patterns in X chromosome anomalies. J Clin Neurophysiol 2004;21:249‑53.
17. Saad K, Abdelrahman AA, Abdel‑Raheem YF, Othman ER, Badry R, Othman HA,et al. Turner syndrome: Review of clinical, neuropsychiatric, and EEG status: An experience of tertiary center. Acta Neurol Belg 2014;114:1‑9.
18. Velíšková J, Desantis KA. Sex and hormonal influences on seizures and epilepsy. Horm Behav 2013;63:267‑77.
19. Campbell ZM, Hyer JM, Lauzon S, Bonilha L, Spampinato MV, Yazdani M. Detection and characteristics of temporal encephaloceles in patients with refractory epilepsy. AJNR Am J Neuroradiol 2018;39:1468‑72.
20. Knickmeyer RC. Turner syndrome: Advances in understanding altered cognition, brain structure and function. Curr Opin Neurol 2012;25:144‑9.
21. Fanciulli M, Pasini E, Malacrida S, Striano P, Striano S, Michelucci R, et al. Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees. Epilepsia 2014;55:1651‑8.
22. Catarino CB, Kasperavičiūtė D, Thom M, Cavalleri GL, Martinian L, Heinzen EL, et al. Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery. Epilepsia 2011;52:1388‑92.
23. Salzmann A, Malafosse A. Genetics of temporal lobe epilepsy: A review. Epilepsy Res Treat 2012;2012:863702.

APA	Arslan D, ÜTİNE E, saygi s (2021). Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. , 194 - 198. 10.4103/nsn.nsn_37_21
Chicago	Arslan Doruk,ÜTİNE Eda,saygi serap Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. (2021): 194 - 198. 10.4103/nsn.nsn_37_21
MLA	Arslan Doruk,ÜTİNE Eda,saygi serap Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. , 2021, ss.194 - 198. 10.4103/nsn.nsn_37_21
AMA	Arslan D,ÜTİNE E,saygi s Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. . 2021; 194 - 198. 10.4103/nsn.nsn_37_21
Vancouver	Arslan D,ÜTİNE E,saygi s Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. . 2021; 194 - 198. 10.4103/nsn.nsn_37_21
IEEE	Arslan D,ÜTİNE E,saygi s "Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review." , ss.194 - 198, 2021. 10.4103/nsn.nsn_37_21
ISNAD	Arslan, Doruk vd. "Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review". (2021), 194-198. https://doi.org/10.4103/nsn.nsn_37_21

APA	Arslan D, ÜTİNE E, saygi s (2021). Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. Neurological sciences and neurophysiology (Online), 38(3), 194 - 198. 10.4103/nsn.nsn_37_21
Chicago	Arslan Doruk,ÜTİNE Eda,saygi serap Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. Neurological sciences and neurophysiology (Online) 38, no.3 (2021): 194 - 198. 10.4103/nsn.nsn_37_21
MLA	Arslan Doruk,ÜTİNE Eda,saygi serap Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. Neurological sciences and neurophysiology (Online), vol.38, no.3, 2021, ss.194 - 198. 10.4103/nsn.nsn_37_21
AMA	Arslan D,ÜTİNE E,saygi s Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. Neurological sciences and neurophysiology (Online). 2021; 38(3): 194 - 198. 10.4103/nsn.nsn_37_21
Vancouver	Arslan D,ÜTİNE E,saygi s Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review. Neurological sciences and neurophysiology (Online). 2021; 38(3): 194 - 198. 10.4103/nsn.nsn_37_21
IEEE	Arslan D,ÜTİNE E,saygi s "Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review." Neurological sciences and neurophysiology (Online), 38, ss.194 - 198, 2021. 10.4103/nsn.nsn_37_21
ISNAD	Arslan, Doruk vd. "Refractory Temporal Lobe Epilepsy in Patients with Mosaic Turner Syndrome: Two Case Reports and Literature Review". Neurological sciences and neurophysiology (Online) 38/3 (2021), 194-198. https://doi.org/10.4103/nsn.nsn_37_21