Seizures in Klinefelter's syndrome

Area of Science:

• Neurology
• Genetics
• Endocrinology

Background:

• Klinefelter's syndrome is a common genetic cause of male hypogonadism.
• It is associated with cognitive, physical, and neurological issues.
• Seizures in this population are under-recognized.

Purpose of the Study:

• To describe the clinical spectrum of seizures in patients with Klinefelter's syndrome.
• To analyze the electroclinical features and treatment outcomes.
• To highlight the neurological aspects of this condition.

Main Methods:

• Retrospective case series analysis.
• Inclusion of three American patients and nine previously reported European patients.
• Review of clinical data, electroencephalograms (EEGs), and seizure control.

Main Results:

• The common profile includes mental retardation, behavioral issues, epileptiform EEGs, and generalized tonic-clonic seizures.
• Epilepsy was present in 11 patients.
• Seizure control was favorable in most patients treated with antiepileptic drugs.

Conclusions:

• Patients with Klinefelter's syndrome and seizures present with a heterogeneous electroclinical spectrum.
• Antiepileptic drug treatment appears effective for managing recurrent seizures.
• Further recognition of neurological comorbidities, including epilepsy, is warranted.