title: Autosomal dominant acute necrotising encephalopathy: a case report with possible disease-expression modification by coincidental homocysteinuria.
abstract: We report the case of a 5-year old girl with autosomal dominant acute necrotising encephalopathy (ADANE), who presented with encephalopathy, seizures and coma following a short febrile illness. MR imaging demonstrated characteristic symmetrical, T2 hyper-intense changes involving the external capsule, thalami, brainstem and cerebellum. Unique to this case was co-existing previously unrecognized homocysteinuria due to cystathionine-β-synthase (CBS) deficiency. We discuss metabolic hypotheses of the pathophysiology of ADANE and suggest that the concurrent homocysteinuria may have contributed to the severe phenotype seen in this child, who has been left with profound neurological deficits.
authors.affiliation: Institute of Neuroscience, Newcastle University, Newcastle NE1 7RU, UK.
authors.forename: Clare
authors.initials: C
authors.lastname: Gilson
authors.forename: Robert
authors.initials: R
authors.lastname: McFarland
authors.forename: Rob
authors.initials: R
authors.lastname: Forsyth
mesh_terms: D000208:Acute Disease; D001928:Brain Diseases, Metabolic / Q000201:enzymology / Q000235:genetics*; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006712:Homocystinuria / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009336:Necrosis