title: Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.
abstract: 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.
authors.affiliation: Department of Neurological and Visual Sciences, Section of Neurology, University of Verona, Policlinico GB Rossi, 37134, Verona, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Giuliano
authors.initials: G
authors.lastname: Tomelleri
authors.forename: Nicolo
authors.initials: N
authors.lastname: Rizzuto
authors.forename: Bernardo
authors.initials: B
authors.lastname: Dalla Bernardina
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Alessandro
authors.initials: A
authors.lastname: Simonati
mesh_terms: 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
chemical_list: D005904:Glial Fibrillary Acidic Protein; D019852:Diacylglycerol Kinase