PROGRESSIVE NEURONAL DEGENERATION OF CHIL DHOOD WITH LIVER-DISEASE (MORBUS ALPERS)

We report upon the findings and clinical course of two patients with p rogressive neuronal degeneration of childhood with liver disease. A pr ogressive hepathopathy combined with a continuous destruction of corti cal neurons is typical for this presumably autosomal recessively inher ited disease. Both children developed an acute severe encephalopathy w ith refractory seizures, multifocal myoclonus associated with a typica l EEG-pattern and a moderate fatty hepato-cellular degeneration. The c ranial MRI revealed abnormalities in the cortex and thalamic nuclei. P roton magnetic resonance spectroscopy findings demonstrated a loss of vital neuronal tissue by a decrease of N-acetylaspartate. Within 6 mon ths one patient died from acute liver failure. The definite diagnosis of M. Alpers depends usually on a postmortem examination of the brain. It forms an etiologically heterogeneous clinical syndrome, whereof th e progressive neuronal degeneration combined with liver disease seems to be a subgroup. Concerning the differential diagnosis the progressiv e neuronal degeneration of childhood should be thought of in all progr essive encephalopathy syndromes with acute onset and therapy-refractor y focal and generalized seizures.