Epileptic encephalopathy refractory to treatment and heredodegenerative disease of unknown etiology

Epileptic encephalopathies are severe brain disorders in which epileptic electrical discharges are presumed to contribute to progressive psychomotor dysfunction. They are related to young age, thus creating progressive dysfunction of the developing neurologic system. Depending on the age at onset, the child loses learned skills, or never even acquires them. First noticeable behavior changes in our patient born from a normal pregnancy occurred while attending kindergarten at the age of 3.5 years. Generalized tonicclonic seizures with loss of consciousness started at the age of 4 years and 10 months. Computed tomography showed atrophy of the brain. Magnetic resonance imaging of the brain showed cerebellar and brain stem atrophy with leukodystrophy. He further became atactic, with choreo-atetotic movements, hypertonus, incomprehensive speech, upper gaze palsy and nystagmus. Psychomotor deterioration developed gradually. No myopathy or neuropathy was shown on electromyoneurography, and no lesion on visual evoked potentials. Wide range laboratory and microbiological investigations were undertaken with normal results. Skin biopsy EM analyses were negative as well as mtDNA, tRNA Leu or Lys. Now, he is aged 13 years and 9 months and his EEG is without pathology with beta waves. He is tetraparetic, with heavy psychomotor retardation, incontinent, obstipated, often vomits and produces a lot of saliva. His current therapy is levetiracetam and his last seizure was 9 months ago. As of now, we were not able to fi nd the causative factor for this progressive heredodegenerative disease with brain atrophy and epileptic encephalopathy refractory to treatment.

Read more