Are patients with Turner's syndrome susceptible to seizures?

Seizures in Turner Syndrome

Patients with Turner syndrome have a higher risk of developing seizures compared to the general population, with evidence showing that some patients may develop epilepsy and seizure disorders that can be refractory to treatment.

Epidemiological Evidence

Turner syndrome, defined as complete or partial absence of one X chromosome in a phenotypic female (most commonly 45,X), affects approximately 1 in 2,500 females 1. While the syndrome is primarily characterized by short stature and ovarian failure, neurological complications including seizures have been documented in the literature.

Research studies have reported:

• Epileptiform activity on EEG in approximately 13.2% of Turner syndrome patients 2
• Cases of intractable epilepsy in patients with Turner syndrome 3
• Both generalized tonic-clonic seizures and focal-onset seizures occurring in affected individuals 3

Potential Mechanisms

Several factors may contribute to the increased seizure susceptibility in Turner syndrome:

1. Chromosomal abnormalities: Mosaic deletions, particularly at Xq21.1, have been associated with epilepsy and intellectual disability in Turner syndrome 3

2. Vascular abnormalities: Patients with Turner syndrome have a high incidence of vascular abnormalities that may affect the central nervous system, potentially contributing to seizure development 4

3. Structural brain abnormalities: Some cases report cortical malformations that may predispose to seizures, similar to what is seen in other genetic syndromes 5

Clinical Presentation

Seizures in Turner syndrome may present as:

• Generalized tonic-clonic seizures
• Focal-onset seizures
• Complex partial seizures that may be misinterpreted as confusion or memory loss

Evaluation Recommendations

For Turner syndrome patients with suspected seizures:

• Electroencephalography (EEG) to identify epileptiform activity
• Brain imaging (MRI or CT) to rule out structural abnormalities
• Regular neurological assessment as part of multidisciplinary care

Management Considerations

Treatment approaches for seizures in Turner syndrome patients include:

• Standard antiepileptic medications, which appear to be effective in most cases 3
• Combination therapy may be necessary for refractory cases
• Some case reports indicate success with clobazam, lamotrigine, and valproic acid combinations 3

Clinical Implications

Healthcare providers caring for patients with Turner syndrome should:

• Be aware of the increased risk of seizures in this population
• Include neurological assessment as part of routine care
• Consider EEG evaluation for patients with suspicious symptoms
• Ensure long-term follow-up by a multidisciplinary team to address all aspects of the syndrome 6, 7

Conclusion

While cardiovascular complications remain the most significant concern in Turner syndrome 1, the neurological manifestations including seizures represent an important aspect of the syndrome that requires attention and appropriate management to improve quality of life and reduce morbidity in affected individuals.