Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency

• Published in: Metabolic brain disease 2017-08, Vol.32 (4), p.967-970
• Main Authors: Chiplunkar, Shwetha, Bindu, Parayil Sankaran, Nagappa, Madhu, Panikulam, Bobby Baby, Arvinda, Hanumanthapura R, Govindaraj, Periyasamy, Srinivas Bharath, MM, Gayathri, Narayanappa, Jessiena Ponmalar, JN, Mathuranath, Pavagada S, Sinha, Sanjib, Taly, Arun B.
• Format: Article
• Language: English
• Subjects: Acyl-CoA dehydrogenase; Acyl-CoA Dehydrogenase - deficiency; Age; Atrophy; Atrophy - diagnostic imaging; Basal ganglia; Biochemistry; Biomedical and Life Sciences; Biomedicine; Brain; Brain - diagnostic imaging; Carnitine; Chains; Coenzyme A; Cortex; Dehydrogenase; Dehydrogenases; Diagnosis; Disease Progression; Epilepsy; Ganglia; Genetic screening; Hereditary diseases; Humans; Infant; Intellectual disabilities; Lesions; Leukomalacia, Periventricular - diagnostic imaging; Lipid Metabolism, Inborn Errors - diagnostic imaging; Magnetic Resonance Imaging; Male; Metabolic Diseases; Mutation; Neuroimaging; Neurology; Neurosciences; NMR; Nuclear magnetic resonance; Oncology; Parents; Patients; Resonance; Seizures; Seizures - diagnostic imaging; Short Communication; Supplements; Swelling; Urine
• ISSN: 0885-7490; 1573-7365
• DOI: 10.1007/s11011-017-0005-5

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.