Non-convulsive status epilepticus in Sotos syndrome: rare first presentation in a rare syndrome

Introduction: Prior to illustration of the causative genetic mutation responsible for Sotos syndrome, diagnosis was based on clinical criteria. They include characteristic facial gestalt, developmental delay, and evidence of overgrowth, in addition to other minor features as cardiac &genitourinary congenital malformation, seizures, scoliosis, among other features. Non-convulsive status epilepticus (NCSE) was not previously reported among Sotos patients.

Case summary: An eleven-years old boy, with developmental delay, characteristic facial & skeletal features presented to the emergency department with a two-hour episode of lapse of consciousness. Electroencephalogram (EEG) showed fluctuating generalized spike-wave/poly-spike wave discharge <2.5 Hertz (Hz), lasting throughout the duration of recording. Intravenous (IV) levetiracetam was associated with clinical & EEG improvement & accordingly the patient was diagnosed as NCSE. The mother reported history of polyhydramnios, febrile seizure & developmental delay. Through clinical & radiological assessment revealed generalized hypotonia, low intelligence quotient (IQ), congenital ureteric stricture & pulmonary hypertension, prominent retro-cerebellar cistern, in addition to scoliosis & facial features suggestive of Sotos Syndrome. Six months after presentation, the patient remained seizure free on levetiracetam monotherapy.

Conclusion: NCSE could occur in Sotos syndrome. In our case, the first reported case of NCSE in Sotos syndrome, the characteristic facial & skeletal findings initiated further work up with fulfillment of the criteria required for the clinical diagnosis of Sotos syndrome.