Epileptic encephalopathy caused by 1p36 deletion: literature review and case series

1p36 deletion syndrome (OMIM: 607872) is an autosomal dominant disease caused by a terminal deletion of the short arm of chromosome 1, characterized by specific craniofacial dysmorphism, delayed speech development and epilepsy. The severity of epilepsy is related to the size of the mutation.

Objective: to study the clinical and electroencephalographic picture of the disease.

We have analyzed 3 cases (male patients from 2 to 6 years old), including anamnesis of life and disease, electroencephalography data in dynamics and genetic analysis data.

All three patients are united by a combination of epilepsy, mental retardation and cerebral palsy-like movement disorders. The epilepsy manifestations varied from severe with absolutely pharmacoresistant epileptic spasms (cases 1 and 2) to mild course with febrile seizures only (case 3). This is probably due to the presence of a shorter mutation in patient 3. Cases 1 and 2 had epileptic encephalopathy, epilepsy with continuing epileptiform discharges on the EEG and a gross delay in speech and mental development. These patients could not speak and not understand the speech addressed, do not follow instructions. Patient 3’ self-care and play activities are developed by age, speech understanding is fully formed, but there is a complete absence of expressive speech.

1p36 deletion syndrome is a developmental and epileptic encephalopathy.