Continuous spikes and waves during slow sleep in a child with karyotype 47, XYY

Area of Science:

• Genetics
• Neurology
• Epileptology

Background:

• XYY syndrome (47,XYY karyotype) is a sex chromosome aneuploidy affecting 1 in 1,000 live male births.
• Limited data exist on the association between XYY syndrome and epilepsy.
• Recent reports suggest a link between XYY karyotype and benign focal epilepsy with centro-temporal spikes (BECTS).

Observation:

• This report details the first patient diagnosed with 47,XYY karyotype, rolandic spikes, and an atypical epilepsy evolution.
• The patient exhibited continuous spikes and waves during slow sleep (CSWSS), an unusual progression.

Findings:

• The co-occurrence of BECTS-like EEG patterns and 47,XYY karyotype may not be coincidental.
• Atypical epilepsy evolution, specifically CSWSS, can occur in individuals with XYY syndrome.

Implications:

• Further research is warranted to explore the potential link between XYY syndrome and specific epileptic syndromes.
• Understanding this association may improve diagnostic and therapeutic strategies for affected individuals.
• This case expands the known spectrum of neurological manifestations associated with XYY syndrome.