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Article

Autosomal dominant acute necrotising encephalopathy: a case report with possible disease-expression modification by coincidental homocysteinuria.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2011

Gilson Clare, McFarland Robert, Forsyth Rob

Abstract excerpt

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...

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Identifiers

PMID: 20570537
DOI: 10.1016/j.ejpn.2010.05.006

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CBS

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