Abstract

CLINICAL CASE OF A CHILD WITH TYPE 1 DIABETES MELLITUS AND AUTOIMMUNE ENCEPHALOPATHY

Margarita Alexieva Archinkova*, Maia Mincheva Konstantinova, Radka Savova Hristova, Daniel Iliev Iliev, Ivan Olegovich Litvinenko

ABSTRACT

Autoimmune etiology is being increasingly discussed as a cause of encephalopathy and intractable epilepsy in children and teenagers. Suspicion for autoimmune encephalopathy arises in patients with another established autoimmune disorder. We present a girl diagnosed with type 1 diabetes at the age of 5 years. The initial immunological laboratory data showed positive autoantibodies: GAD- 65 Ab = 92.5 IU/ml (n. v. <5); anti IA-2 = 553.1 IU/ml (n.v. <10); IAA = 4.8 U/ml (n.v. <2.5). She was discharged from the hospital with insulin dose of 0.53 U/kg/daily. A month later she presented with recurrent attacks of abdominal pain, which became more frequent and severe and accompanied by convulsions and episodes of unconsciousness. The electroencephalogram (EEG) showed temporal epilepsy and slowing of the background. Brain MRI showed cortex dysplasia of the left lobe occipital area and FLAIR and T2 signal changes. The second serum GAD -65 Ab examination found their levels significantly elevated to >2000 IU/ml and positive anti- GAD –65 Ab in the examined cerebro-spinal fluid (CSF). The therapeutic scheme included the following medications: anticonvulsant drugs; 12 courses immunoglobulin infusions; 3 pulses corticosteroids; plasmapheresis and immunosuppressive therapy with rituximab. The last therapeutic option was electrostimulation of vagus nerve (VNS) with no improvement. Our patient had unsatisfactory effect of immunotherapy and the seizures persisted although the treatment was started early. Prognosis of this rare condition is unfavorable because of deterioration causing progression of central nervous system (CNS) findings, frequent and severe seizures and intellectual degradation combined in worsening of metabolic control.

Keywords: autoimmune encephalopathy, autoimmune epilepsy, type 1 diabetes mellitus, anti-glutamic acid decarboxylase antibodies (GAD-Ab).