Generalized epilepsy in a patient with mosaic Turner syndrome: a case report

IntroductionReports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic–clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly.Case presentationA 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic–clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome.ConclusionsThere is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

• Publication year

  2014

• Venue

  Journal of Medical Case Reports

• Publication date

  2014-04-02

• Fields of study

  Medicine

• Identifiers
  DOI 10.1186/1752-1947-8-109PMID 24694237PMCID 4008388
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Alterations of the Cerebral White Matter in a Middle-Aged Patient with Turner Syndrome: An MRI Study

  2012cited by this paper
• Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism.

  2012cited by this paper
• Turner syndrome: advances in understanding altered cognition, brain structure and function.

  2012influential reference
• Low-level X chromosome mosaicism in women with sporadic premature ovarian failure.

  2011cited by this paper
• Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency

  2011cited by this paper
• A review of trisomy X (47,XXX)

  2010cited by this paper
• Laboratory guideline for Turner syndrome

  2010influential reference
• 45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit.

  2010cited by this paper
• Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

  2008influential reference
• Cerebral lateral ventricular asymmetry on CT: how much asymmetry is representing pathology?

  2008cited by this paper
• Girl with partial Turner syndrome and absence epilepsy.

  2008cited by this paper
• Bilateral temporal lobe epilepsy in a patient with Turner syndrome mosaicism.

  2007influential reference
• Partial epilepsy and 47,XXX karyotype: report of four cases.

  2006cited by this paper
• Selective Alterations of White Matter Associated with Visuospatial and Sensorimotor Dysfunction in Turner Syndrome

  2006cited by this paper
• Influence of X chromosome and hormones on human brain development: a magnetic resonance imaging and proton magnetic resonance spectroscopy study of Turner syndrome.

  2006cited by this paper
• Intractable epilepsy in Turner syndrome associated with bilateral perisylvian hypoplasia: one case report.

  2005influential reference
• Electroencephalographic and Epileptic Patterns in X Chromosome Anomalies

  2004influential reference
• Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: a case report.

  2003influential reference
• ATM mutations in Finnish breast cancer patients

  2002cited by this paper
• Difference between left and right lateral ventricular sizes in neonates.

  2002cited by this paper
• Turner's syndrome.

  1997influential reference
• Cerebral Lateral Ventricular Asymmetry: Is This a Normal Ultrasonographic Finding in the Fetal Brain?

  1997cited by this paper
• Turner's syndrome.

  1996cited by this paper
• Cortical Dysgenesis in a Patient with Turner Mosaicism

  1996influential reference
• [Epilepsy and Turner's syndrome: report of a case and review of the literature].

  1990cited by this paper
• Computed tomography and lateral ventricular asymmetry: clinical and brain structural correlates.

  1990cited by this paper
• [Lennox-Gastaut syndrome of late onset? Report of a case].

  1990cited by this paper
• Structure and Barr body formation of an Xp + chromosome with two inactivation centers.

  1977cited by this paper
• Journal of Medical Case Reports

  year unknowncited by this paper

• Turner syndrome and neuropsychological abnormalities: a review and case series

  2024cites this paper
• Frontal lobe epilepsy in a patient with mosaic Turner syndrome.

  2023cites this paper
• Perampanel efficacy on focal status epilepticus in Turner's syndrome with combined generalized and focal epilepsy.

  2022cites this paper
• The Transcription Factor Shox2 Shapes Neuron Firing Properties and Suppresses Seizures by Regulation of Key Ion Channels in Thalamocortical Neurons.

  2021cites this paper
• Refractory temporal lobe epilepsy in patients with mosaic turner syndrome: two case reports and literature review

  2021cites this paper
• Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study

  2021cites this paper
• Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: A Case Study

  2020cites this paper
• The transcription factor Shox2 shapes thalamocortical neuron firing and synaptic properties

  2019cites this paper
• The transcription factor Shox2 shapes thalamocortical neuron firing properties by regulation of key ion channels

  2019cites this paper
• Concomitance of numerical chromosomal alterations with structural in an elderly with Alzheimer’s disease: a case report

  2019cites this paper
• Chiari I Malformation Associated with Turner Syndrome

  2017cites this paper
• A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome

  2016cites this paper
• Karyotypic Variables in Turner Syndrome: A Case Series

  2015cites this paper
• Epilepsy associated with Turner syndrome.

  2015cites this paper