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

作者：Gilson Clare; McFarland Robert; Forsyth Rob^*

来源：European Journal of Paediatric Neurology, 2011, 15(2): 174-176.

DOI：10.1016/j.ejpn.2010.05.006

• Autosomal dominant acute necrotising encephalopathy
• Metabolic disease inherited
• Mitochondrial disease
• Coma

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-beta-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.

• 出版日期2011-3