Nitish Chourasia1, Rahmat B Adejumo2, Rajan P Patel3, Mary Kay Koenig2. 1. Division of Child and Adolescent Neurology, Mitochondrial Center of Excellence, University of Texas Health Science Center at Houston, Houston, Texas. Electronic address: Nitish.Chourasia@uth.tmc.edu. 2. Division of Child and Adolescent Neurology, Mitochondrial Center of Excellence, University of Texas Health Science Center at Houston, Houston, Texas. 3. Division of Neuroradiology, Department of Diagnostic & Interventional Imaging, University of Texas Health Science Center at Houston, Houston, Texas.
Abstract
BACKGROUND: Leigh syndrome is an early-onset progressive neurodegenerative disorder typically involving lesions of the bilateral basal ganglia, thalami, and brainstem. Isolated involvement of the cerebellum is uncommon. PATIENT DESCRIPTION: We present a six-year-old boy with Leigh syndrome who presented with recurrent episodes of ataxia and dysarthria. He was diagnosed with Leigh syndrome at two 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). He experienced regressive episodes (ages five and six years). Each regressive episode 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. CONCLUSIONS: Leigh syndrome can present primarily with involvement of the cerebellum, and it should be considered in the differential diagnosis for acute cerebellitis. Published by Elsevier Inc.
BACKGROUND: Leigh syndrome is an early-onset progressive neurodegenerative disorder typically involving lesions of the bilateral basal ganglia, thalami, and brainstem. Isolated involvement of the cerebellum is uncommon. PATIENT DESCRIPTION: We present a six-year-old boy with Leigh syndrome who presented with recurrent episodes of ataxia and dysarthria. He was diagnosed with Leigh syndrome at two 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). He experienced regressive episodes (ages five and six years). Each regressive episode 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. CONCLUSIONS: Leigh syndrome can present primarily with involvement of the cerebellum, and it should be considered in the differential diagnosis for acute cerebellitis. Published by Elsevier Inc.
Entities:
Keywords:
Leigh syndrome; ataxia; cerebellitis; dysarthria; magnetic resonance spectroscopy
Authors: Simon C Johnson; Ernst-Bernhard Kayser; Rebecca Bornstein; Julia Stokes; Alessandro Bitto; Kyung Yeon Park; Amanda Pan; Grace Sun; Daniel Raftery; Matt Kaeberlein; Margaret M Sedensky; Philip G Morgan Journal: Mol Genet Metab Date: 2020-04-03 Impact factor: 4.204