Involvement of Cerebellum in Leigh Syndrome: Case report and review of literature

Publication date: Available online 19 May 2017
Source:Pediatric Neurology
Author(s): Nitish Chourasia, Rahmat Adejumo, Rajan Patel, Mary Kay Koenig
A 6 year old male with Leigh syndrome developed recurrent cerebellar involvement. The patient was diagnosed with Leigh syndrome at 2 years of age with bilateral basal ganglia lesions on brain magnetic resonance imaging (MRI). Genetic testing confirmed a diagnosis of Leigh syndrome secondary to a homoplasmic mitochondrial DNA mutation (m.9176T>C). The patient experienced regressive episodes (ages 5, and 6 years). All the regressive episodes had a similar presentation with worsening of baseline ataxia and dysarthria. The first episode mimicked infectious cerebellitis, with elevated cerebral spinal fluid (CSF) protein and white blood cell count. No organisms were isolated from the CSF/blood during any of the regressive episodes. Brain MRI consistently showed cerebellar lesions, however cerebellar spectroscopy during the second episode found: an elevated lactate peak, a decrease of the N-acetylaspartate peak, and elevation of the choline peak; consistent with an acute exacerbation of Leigh syndrome. We therefore hypothesize that, although rare, Leigh syndrome can present primarily with involvement of the cerebellum and should be considered in the differential diagnosis for acute cerebellitis.



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