Four children, from two families, with fatal degeneration of the cerebral grey matter and terminal hepatic dysfunction are reported from the Royal Belfast Hospital for Sick Children, Northern Ireland. The disease presented with intractable generalized or partial seizures during infancy in 3 and at 5 years of age in one patient. Epilepsia partialis continua was associated with ataxia and progressive neurologic deterioration. The EEG showed high amplitude slow waves with smaller poyspikes. Visual evoked responses were delayed, and CTs showed cerebral atrophy. Post mortem findings in one patient included neuronal loss and gliosis and hepatic cirrhosis. [1]
COMMENT. Valproic acid, sometimes implicated in deaths of young infants with this syndrome, was apparently not a factor in these cases. Early diagnosis allows appropriate genetic counselling.