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| LETTER TO EDITOR |
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| Year : 2015 | Volume
: 63
| Issue : 4 | Page : 631-633 |
Epilepsy associated with Turner syndrome
HongMei Zhao1, Ya Jun Lian2
1 Department of Clinical Medicine, Graduate Student of Zhengzhou University, Zhengzhou, China
2 Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
| Date of Web Publication | 4-Aug-2015 |
Correspondence Address:
Ya Jun Lian
Department of Clinical Medicine, Graduate Student of Zhengzhou University, Zhengzhou
China
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.162113
How to cite this article:
Zhao H, Lian YJ. Epilepsy associated with Turner syndrome. Neurol India 2015;63:631-3 |
Sir,
Turner syndrome (TS) is the most frequent sex abnormality in females, which results from the absence of one X chromosome. [1] There are only a few case reports of patients with TS who have epilepsy. [2],[3],[4],[5],[6],[7],[8],[9],[10],[11] We present a case of a patient with TS and intractable epilepsy and review the pertinent literature.
A 50-year-old Chinese woman present with both generalized and partial seizures since childhood. She had her first partial seizure attack during sleep when she was 8-year-old. The duration was 1-2 min and the partial seizures were characterized by right or left deviation of the head and eyes, logaphasia and automatisms. The frequency was about two attacks every month despite her taking Chinese herbs and clonazepam. She changed the medication to topiramate and carbamazepine 9 years ago but the seizures remained poorly controlled. She stopped both these antiepileptic drugs against medical advice 4 years ago. She presented with generalized tonic-clonic seizures to our hospital and was transferred to our neurology outpatient clinic.
She was the second child and and her mother did not have any significant obstetric history. She presented with delayed motor milestones and had poorly developed language skills. There was no history of epilepsy or hereditary diseases in her family.
On general examination, she had a short stature, a webbed neck and micrognathia. Neurological examination revealed poor language skills and a mild mental retardation.
Laboratory data revealed slight increase in transaminase. Ultrasonography of the genitals indicated a small uterus, and that of the abdomen and heart were normal. The cytogenetic analysis revealed a 45, X karyotype without mosaicism. The interictal electroencephalogram (EEG) was normal. Video-EEG monitoring recorded several, stereotyped, seizures: Sudden logaphasia, followed by automatisms without unconsciousness. Ictal EEG showed bilateral hemispheric, continuous high-voltage spike and wave complex. The 3Tesla magnetic resonance imaging (MRI) showed mild brain atrophy with normal signal intensity and digitations.
We performed a literature review through a PubMed search from 1996 until 2014 using key words, "epilepsy" and "Turner syndrome." Ten cases of epilepsy associated with TS were retrieved from PubMed. The general and clinical characteristics of the 10 cases and our additional case are reviewed in [Table 1] and [Table 2]. In our study, 81.82% cases were very young patients whose age at the onset of epilepsy was no more than 12 years. Chinese and Italians subjects are more vulnerable to this syndrome with 27.27% cases being from China and Italy, respectively. The clinical features of this syndrome were characteristic. In 63.64% of patients, the karyotype analysis showed mosaicism. About 45.45% cases had a mixed seizure type. They all showed EEG abnormality and many showed spike-and-wave complexes. About 54.55% cases revealed abnormalities on magnetic resonance imaging of the brain, including pachygyria, lissencephaly, bilateral frontal polymicrogyria, bilateral perisylvian hypoplasia and partial agenesis. About 81.82% cases were treated with multiple antiepileptic drugs. After treatment, most (except 2) cases showed a poor prognosis.
Turner syndrome is a complex developmental disorder in individuals who possess a short stature, a 45, X cell line, with or without mosaicism. Neurological manifestations are often an integral part of the clinical syndrome and include mental retardation, psychosis, and specific neuropsychological dysfunctions. Epilepsy in TS has rarely been reported.
Due to the rarity of the disease and sparse literature, the pathophysiology of epilepsy in TS is still unclear. The X chromosome can cause alterations of gray matter volumes and in neuronal networks. [12] These changes are associated with cognitive dysfunction and also may be partially responsible for the genesis of epilepsy. About 15% of patients with trisomy X syndrome have seizure disorders. TS associated with trisomic X chromosomes probably have a higher incidence of seizure disorders. In addition, the role of sex hormone insufficiency appears to influence the occurrence of epilepsy in TS. Studies demonstrated that, by altering neuronal excitability, hormones may influence seizure thresholds and patterns. [13]
In conclusion, the association of epilepsy and TS is rare, and only a few reports have been published in the past 20 years. The characteristic clinical features of TS and the associated epilepsy are helpful in the diagnosis of this syndrome. Abnormality of the X-chromosome may be responsible for the simultaneous occurrence of the two entitites. Antiepileptic drug therapies are often not completely effective in this syndrome. Further investigations and trials into the mechanism and management of epilepsy in patients with TS are urgently needed.
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| 2. | 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. |
| 3. | 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. |
| 4. | Zeng YJ, Yang XS, Tian FF, Xiao L, Liu W, Yang X. A case of Turner syndrome combined with epilepsy. Zhong Nan Da Xue Xue Bao Yi Xue Ban 2004;29:364. |
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| 8. | 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. |
| 9. | 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;1:311-15. |
| 10. | 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. |
| 11. | Magara SI, Kawashima H, Kobayashi Y, Akasaka N, Yamazaki S, Tohyama J. Rub epilepsy in an infant with Turner syndrome. Brain Dev 2014 Dec 2. pii: S0387-7604 (14) 00265-4. doi: 10.1016/j.braindev. 2014.11.004. |
| 12. | Knickmeyer RC. Turner syndrome: Advances in understanding altered cognition, brain structure and function. Curr Opin Neurol 2012;25:144-9. |
| 13. | Velíšková J, Desantis KA. Sex and hormonal influences on seizures and epilepsy. Horm Behav 2013;63:267-77. |
[Table 1], [Table 2]
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