Broadening the Picture of Short-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report with Microcephaly, Leukoencephalopathy, and Characteristic Magnetic Resonance Spectroscopic Findings

Maria Papadopoulou; Kyriaki Papadopoulou-Legbelou; Iokasti Koutsampasopoulou; Despoina Tramma; Athanassios Evangeliou

doi:10.1055/s-0037-1607997

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2018; 16(04): 243-247
DOI: 10.1055/s-0037-1607997

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Broadening the Picture of Short-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report with Microcephaly, Leukoencephalopathy, and Characteristic Magnetic Resonance Spectroscopic Findings

Authors

Maria Papadopoulou

¹4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, “Papageorgiou” General Hospital, Thessaloniki, Greece
Kyriaki Papadopoulou-Legbelou

¹4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, “Papageorgiou” General Hospital, Thessaloniki, Greece
Iokasti Koutsampasopoulou

²Department of Radiology, “Papageorgiou” General Hospital, Thessaloniki, Greece
Despoina Tramma

¹4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, “Papageorgiou” General Hospital, Thessaloniki, Greece
Athanassios Evangeliou

¹4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, “Papageorgiou” General Hospital, Thessaloniki, Greece

Abstract

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a mitochondrial fatty acid metabolism disorder, which results in the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Evidence of genotype/phenotype correlation and neuroimaging characteristics is limited compared with other inborn errors of metabolism. We report a male patient with SCADD who initially presented with seizures, metabolic acidosis, microcephaly, and developmental delay with gradual amelioration of most symptoms. MRI/MRS revealed extended multifocal leukoencephalopathy, disturbed myelination, and abnormal brain energy metabolism with low choline/creatine ratio, which indicate the need for MRI/MRS follow-up even for asymptomatic patients with SCADD.

Keywords

short-chain acyl-CoA dehydrogenase deficiency - microcephaly - leukoencephalopathy - magnetic resonance spectroscopy

Full Text

References

References
1 Jethva R, Bennett MJ, Vockley J. Short-chain acyl-coenzyme: A dehydrogenase deficiency. Mol Genet Metab 2008; 95 (04) 195-200
2 Wolfe L, Jethva R, Oglesbee D. , et al. Short-chain Acyl-CoA dehydrogenase deficiency 2011. In: Pagon RA, Adam MP, Ardinger HH. , et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2017 . Available at: https://www.ncbi.nlm.nih.gov/books/NBK63582/
3 Corydon MJ, Gregersen N, Lehnert W. , et al. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res 1996; 39 (06) 1059-1066
4 Okuyaz C, Ezgü FS, Biberoglu G, Zeviani M, Tiranti V, Yilgör E. Severe infantile hypotonia with ethylmalonic aciduria: case report. J Child Neurol 2008; 23 (06) 703-705
5 Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 1995; 126 (06) 910-915
6 Young SP, Matern D, Gregersen N. , et al. A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta 2003; 337 (1–2): 103-113
7 Amendt BA, Greene C, Sweetman L. , et al. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest 1987; 79 (05) 1303-1309
8 Battisti C, Forte F, Molinelli M. , et al. A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. Neurol Sci 2007; 28 (06) 328-330
9 Pena L, Angle B, Burton B, Charrow J. Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience. Genet Med 2012; 14 (03) 342-347
10 Mikati MA, Chaaban HR, Karam PE, Krishnamoorthy KS. Brain malformation and infantile spasms in a SCAD deficiency patient. Pediatr Neurol 2007; 36 (01) 48-50
11 Cajaiba MM, Hughes AM, Pierson CR. Central nervous system pathology in an infant with short-chain acyl-CoA dehydrogenase deficiency (SCADD): evidence for abnormal neuronal migration as part of its phenotypic spectrum. Clin Neuropathol 2012; 31 (05) 386-388
12 Chiplunkar S, Bindu PS, Nagappa M. , et al. Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency. Metab Brain Dis 2017; 32 (04) 967-970
13 Gallant NM, Leydiker K, Tang H. , et al. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab 2012; 106 (01) 55-61
14 Jethva R, Ficicioglu C. Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening. Mol Genet Metab 2008; 95 (04) 241-242
15 van Maldegem BT, Wanders RJ, Wijburg FA. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2010; 33 (05) 507-511
16 Rossi A, Biancheri R. Magnetic resonance spectroscopy in metabolic disorders. Neuroimaging Clin N Am 2013; 23 (03) 425-448
17 Rossi A, Biancheri R, Zara F. , et al. Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. Am J Neuroradiol 2008; 29 (02) 301-305