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.
Filosto
Massimiliano
M
Department of Neurological and Visual Sciences, Section of Neurology, University of Verona, Policlinico GB Rossi, 37134, Verona, Italy.
Mancuso
Michelangelo
M
Tomelleri
Giuliano
G
Rizzuto
Nicolo
N
Dalla Bernardina
Bernardo
B
DiMauro
Salvatore
S
Simonati
Alessandro
A
D001921:Brain / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D019852:Diacylglycerol Kinase / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D013194:Staining and Labeling / Q000379:methods
D005904:Glial Fibrillary Acidic Protein; D019852:Diacylglycerol Kinase