Focal Epilepsy in Individuals with Laron Syndrome
2Tel Aviv University, Sackler Faculty of Medicine, ישראל
3Endocrinology and Diabetes research unit, Schneider Children's Medical Center of Israel, ישראל
4Institute of Pediatric Imaging, Schneider Children's Medical Center of Israel, ישראל
5Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, ישראל
Laron syndrome (LS) is a rare genetic disease caused by deletions or mutations in the GH-receptor. Reports regarding seizures among these patients have been traditionally linked to hypoglycemic events
Objectives: To determine the link between LS and epilepsy.
Methods: Data have been retrieved from medical records of a cohort of 75 patients with LS in our clinic.
Results: We describe for the first time 4 patients with concomitant focal epilepsy and LS. Two of them experienced episodes of status epilepticus (SE). EEGs in all four patients showed interictal epileptiform discharges (IEDs) in the temporal regions. Three achieved long-term seizure freedom on anti-seizure medications.
Conclusion: Focal epilepsy may be a previously unrecognized neurological manifestation of LS, which is unrelated to episodes of hypoglycemia in childhood.