Abstract
Two children with severe neurodevelopmental retardation and elevated liver function
tests developed intractable seizures during the first year of life. Detectable neurometabolic
conditions have been ruled out. At the time of seizures evidence for systemic selenium
deficiency could be documented. The youngest patient, who manifested intractable fits
from the fourth day of life, died at the age of ten months. Neuropathologic examination
was consistent with Progressive Neuronal Degeneration of Childhood (PNDC) with liver
disease or formerly known as Alpers disease. In the oldest child, whose diet was normally
balanced, fits started from the age of 11 months and features of long-standing selenium
deficiency became apparent from the age of 1 1/2 years and consisted of liver function
disturbances, depigmented hair and osteoarthropathy Oral substitution with selenium
supplements in both children (3-5 µg/kg body weight) resulted in reduction of seizures
and improvement of the EEG recordings after two weeks while liver function became
normal.
Two of the seleno-dependent enzymes Glutathione Peroxidase (GPX) and Phospholipid
Hydroperoxide Glutathione Peroxidase (PHGPX) are speculated to play a key-role in
the defence of neuronal cells against oxygen radical formation and peroxidative processes.
Our findings support the hypothesis that the presence of selenium depletion in the
brain amongst patients with epilepsy constitutes an important triggering factor for
the origin of intractable seizures and subsequent neuronal damage.
Key words
Epilepsy - Oxygen radicals - Selenium - Alpers disease
