Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: A Case Study

Abstract

Turner syndrome (TS) is the most frequent sex abnormality in women. The physical features include short stature, webbing of the neck, and gonadal dysgenesis. Typically, patients with Turner syndrome exhibit no intellectual disability, and a few cases of TS have been associated with epilepsy. Herein, we present a case of TS with intractable epilepsy. The patient presented with global developmental delay at the age of two and karyotyping revealed mosaicism [45, X/46, X del (X) (q21.1)]. At the age of seven, she had generalized tonic epilepsy as well as several focal-onset seizures. She developed daily seizures, which were refractory to several antiepileptic drugs. Interictal electroencephalography (EEG) revealed multifocal spikes, and ictal EEG revealed shifting foci. She visited our hospital at the age of 13. Her peripheral white blood cells G-band and fluorescence in situ hybridization (FISH) method chromosome with cheek swab examinations revealed 45, X. Her peripheral white blood cell mosaic pattern may have disappeared over time or become indetectable. We treated her with clobazam, and then lamotrigine and valproic acid combination therapy, which resulted in a reduction in the frequency of seizures by approximately 50%. Epilepsy and intellectual disability in this case may be due to the mosaic deletion at Xq21.1. Further analysis of similar cases may provide valuable information for effective therapeutic strategies.

Frontal lobe epilepsy in a patient with mosaic Turner syndrome

“…There is increasing evidence that epilepsy can be an uncommon presentation of TS, with a frequency of approximately 2%-3%. 2 One study including 53 TS patients revealed EEG abnormalities in seven (13.20%). 3 However, case reports of TS patients with epilepsy are rare and are mainly associated with malformations of cortical development, including focal cortical dysplasia, periventricular heterotopia, polymicrogyria, lissencephaly, and mild brain atrophy.…”

“…Turner syndrome (TS) is one of the most common sex chromosome disorders and includes either monosomy or a wide spectrum of structural rearrangements of chromosome X. 1,2 The classical phenotype is characterized by short stature, gonadal dysgenesis, congenital heart diseases, and renal abnormalities. However, the constellation of clinical findings may present some degree of variability.…”

“…Patients with mosaic TS often present a milder or even normal phenotype. 1,2 Despite evidence of cognitive and neuropsychiatric manifestations, epilepsy has been rarely reported with most patients suffering from malformations of cortical development. [1][2][3] We report a patient with mosaic TS with late-onset non-lesional frontal lobe epilepsy (FLE).…”

“…1,2 Despite evidence of cognitive and neuropsychiatric manifestations, epilepsy has been rarely reported with most patients suffering from malformations of cortical development. [1][2][3] We report a patient with mosaic TS with late-onset non-lesional frontal lobe epilepsy (FLE). This case report reinforces the spectrum of neurologic manifestations associated with TS, demonstrating a focal epilepsy with a different topography and semiology, not previously reported in the literature.…”

“…Indeed, the majority of TS patients with epilepsy previously described had a mosaicism karyotype. 2 Recently, greater attention has been focused on the role of the X chromosome in development of brain structure. Neuroimaging studies revealed that TS individuals have significant differences in the anatomy, function, and metabolism of some brain regions.…”