Background. Acute necrotizing encephalopathy (ANE) is a rare encephalopathy occurring after minor infection in children. ANE was initially described in 1995 in Asian children. The brain lesions are remarkably similar among patients with ANE, including white matter, bilateral thalamic, brain stem, and cerebellar lesions. Most children experience a monophasic illness but there is a predisposition to recurrent episodes in patients who have (dominant/de novo) mutarion in RANBP2 gene.
Material and methods. A 2.5 year old boy presented with gait disturbance and self-reported leg pain. Persistent subfebrile temperature and leukocytosis were noticed for the last two months. CSF analysis was normal. Brain MRI showed marked bilateral lesions in basal ganglia, periventricular white matter, cerebellum, cerebellar peduncles, and brainstem. A 4 year old girl presentedwith acute ataxia, right eye convergent strabismus, dysarthria, left arm weakness, and vomiting. She had salmonellosis 2 weeks ago. CSF analysis showed increased protein and mild cytosis. Broad screening for neuroinfeciions were normal. Brain MRI showed bilateral lesions in thalami, cerebellum, cerebellar peduncles, and brainstem.
Results. Presented cases elucidate typical neuroimaging features, CSF profile and quite uncommon clinical presentation of a rare encephalopathy in Caucasian children.
Conclusions. The diagnosis of ANE in children is mainly based on combination of nonspecific symptoms and rather distinctive imaging features. There is an unmet need for easily accessible genetic testing in order to predict outcome.
