title: Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.
abstract: Reports on magnetic resonance imaging findings in patients with short chain acyl -Coenzyme A dehydrogenase (SCAD) deficiency, an autosomal recessive disorder caused by mutations in the acyl-Coenzyme A dehydrogenase (ACADS), are limited. Many asymptomatic carriers of ACAD variants have also been described necessitating careful evaluation of clinical and biochemical findings for an accurate diagnosis. Here we report a an infant with short chain acyl -Coenzyme A dehydrogenase (SCAD) deficiency diagnosed based on the characteristic biochemical findings and confirmed by genetic testing. He presented with refractory seizures and neuro regression at 4 months of age. His metabolic work up revealed elevated butyryl carnitine in plasma and ethyl malonic acid in urine. Magnetic resonance imaging of the brain showed cortical and basal ganglia signal changes with cortical swelling. Serial scans showed progression of the lesions resulting in cystic leukomalacia with brain atrophy. Exome sequencing revealed a novel homozygous nonsense variation, c.1146C > G (p.Y382Ter) in exon ten of ACADS which was further validated by Sanger sequencing. Both parents were heterozygous carriers. Follow up at 15 months showed gross psychomotor retardation and refractory seizures despite being on optimal doses of anti-epileptic medications, carnitine and multivitamin supplementation. This report expands the phenotypic and genotypic spectrum of SCAD deficiency.
authors.affiliation: Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Neuromuscular Laboratory-Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Shwetha
authors.initials: S
authors.lastname: Chiplunkar
authors.affiliation: Neuromuscular Laboratory-Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. drpsbindu@yahoo.co.in.|Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. drpsbindu@yahoo.co.in.
authors.forename: Parayil Sankaran
authors.identifier: 0000-0002-1914-9505
authors.initials: PS
authors.lastname: Bindu
authors.affiliation: Neuromuscular Laboratory-Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Madhu
authors.initials: M
authors.lastname: Nagappa
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Bobby Baby
authors.initials: BB
authors.lastname: Panikulam
authors.affiliation: Department of Neuroimaging & Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
authors.forename: Hanumanthapura R
authors.initials: HR
authors.lastname: Arvinda
authors.affiliation: Neuromuscular Laboratory-Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Periyasamy
authors.initials: P
authors.lastname: Govindaraj
authors.affiliation: Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: M M
authors.initials: MM
authors.lastname: Srinivas Bharath
authors.affiliation: Neuromuscular Laboratory-Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Narayanappa
authors.initials: N
authors.lastname: Gayathri
authors.affiliation: Neuromuscular Laboratory-Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: J N
authors.initials: JN
authors.lastname: Jessiena Ponmalar
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Pavagada S
authors.initials: PS
authors.lastname: Mathuranath
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
authors.affiliation: Neuromuscular Laboratory-Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D001284:Atrophy / Q000000981:diagnostic imaging; D001921:Brain / Q000000981:diagnostic imaging*; D018450:Disease Progression; D006801:Humans; D007223:Infant; D007969:Leukomalacia, Periventricular / Q000000981:diagnostic imaging*; D008052:Lipid Metabolism, Inborn Errors / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging; D008297:Male; D012640:Seizures / Q000000981:diagnostic imaging
chemical_list: D042964:Acyl-CoA Dehydrogenase
keywords: ACAD; Basal ganglia; Cystic leukomalacia; MRI; Short chain acyl -coenzyme A dehydrogenase (SCAD) deficiency