Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation

Focal spongy degeneration of the white matter and Purkinje cell loss were the neuropathological hallmarks in an infant with hepato-cerebral syndrome and a 4-bp GATT duplication (nucleotides 763-766) in exon 6 of the dGK gene. Liver disease became manifest in the first months of life and was followed by progressive cirrhosis and death at 31 months. Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement.