De Vivo disease (myoclonic-astatic epilepsy combined with chorea): literature review, clinical case description

Abstract

De Vivo disease is a rare genetic disorder associated with glucose transporter type 1 (GLUT1) deficiency. We provide a review of publications describing various clinical manifestations of this syndrome, including the combination of epilepsy with choreic hyperkinesis. The seizures related to De Vivo disease are resistant to basic antiepileptic therapy. The ketogenic diet is suggested as the main treatment method. We present our own clinical observation describing an 18-years old male patient, who had myoclonic-astatic seizures and atactic manifestations such as impaired movements coordination and walking instability, which first appeared at the age of 1.5 years. Due to therapy with valproic acid drugs, seizures persisted with a frequency of up to 5 times a month. From the age of 17, involuntary violent irregular movements of trunk and limb muscles emerged, occurring at a fast pace. The patient underwent a comprehensive examination; as a result, the diagnosis of De Vivo disease was verified. By prescribing proper antiepileptic therapy and ketogenic diet, it was possible to stabilize the patient's condition and stop De Vivo disease-related manifestations of epilepsy and hyperkinetic disorder. We pay attention to the differential diagnosis of conditions characterized by epileptic seizures, mental retardation and violent movements, as well as to the diagnosis and management tactics of patients with De Vivo disease. Unfortunately, not all patients with this pathology receive adequate pathogenetic and symptomatic therapy often undergoing numerous hospitalizations, since the major cause underlying such symptoms, namely GLUT1 deficiency, is not diagnosed.