Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation☆☆☆☆☆☆

CNS involvement Encephalopathy Yes Yes [Lamperti 2012] Dystonia Yes Yes [Carrozza 2016] Spasticity Yes Yes [Carrozza 2016] Choreoathetosis Yes No [Ostergaard 2007] Migraine Yes No No Developmental delay Yes Yes [Carrozza 2016] Irritability Yes No [Lamperti 2012] Hypotonia Yes Yes [Carrozza 2016] Perturbed sleep/wake cycle No Yes No Dysarthria/anarthria Yes Yes [Lamperti 2012] Basal ganglia involvement Yes No [Carrozzo 2016, Liu 2014] Epilepsy No No [Carrozza 2016] Corpus callosum thinning Yes No No Low-lying conus medullaris No Yes No Leigh-like MRI No Yes [Wortmann 2009] Ocular involvement Blindness (optic atrophy) No Yes No Otologic involvement Hearing loss Yes Yes [Morawa 2009, Carrozza 2016] Gastrointestinal involvement Cyclic vomiting Yes Yes [Carrozza 2016] Constipation No Yes No Gastroparesis No Yes No Gastro-intestinal dysmotility No Yes [Lamperti 2012] Cecal volvulus No Yes No GERD Yes Yes [Carrozza 2016] Poor feeding Yes Yes [Carrozza 2016] Gallstones No Yes No Endocrine involvement Diabetes Yes No No Short stature Yes Yes [Carrozza 2016] Hypogonadism Yes No No Osteoporosis (spontaneous fractures) Yes Yes No