Abstract
Epileptic seizures are a frequent symptom in metabolic disorders. However, it is neither seizure semiology nor EEG or MRI findings that guide the physician to the correct diagnosis. It is more important to consider the clinical syndrome, the age at presentation, and appropriate laboratory investigations.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Appignani BA, Kaye EM, Wolpert SM (1996) CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. AJNR Am J Neuroradiol 17(2):317–320
Autti T, Joensuu R, Aberg L (2007) Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. Neuroradiology 49(7):571–578
Barkovich AJ, Good WV, Koch TK, Berg BO (1993) Mitochondrial disorders: analysis of their clinical and imaging characteristic. AJNR Am J Neuroradiol 14:1119–1137
Barkovich AJ, Peck WW (1997) MR of Zellweger syndrome. AJNR Am J Neuroradiol 18(6):1163–1170
Barkovich AJ (2007) An approach to MRI of metabolic disorders in children. J Neurorad 34:75–78
Barnerias C, Saudubray JM, Touati G et al (2010) Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 52:e1–e9
Berkovic SF, Carpenter S, Evans A et al (1989) Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 112:1231–1260
Brismar J, Ozand PT (1994) CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. AJNR Am J Neuroradiol 15(8):1459–1473 Review
Brismar J, Ozand PT (1995) CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients. AJNR Am J Neuroradiol 16(4):675–683
Chu K, Kang DW, Kim DE et al (2002) Diffusion-weighted and gradient echo magnetic resonance findings of hemichorea-hemiballismus associated with diabetic hyperglycemia: a hyperviscosity syndrome? Arch Neurol 59:448–452
Davis RL, Holohan PD, Shrimpton AE et al (1999) Familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol 155:1901–1913
de Koning TJ, Jaeken J, Pineda M et al (2000) Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics 31(6):287–292
de Koning TJ, Klomp LW (2004) Serine-deficiency syndromes. Curr Opin Neurol 17(2):197–204
Desai S, Ganesan K, Hegde A (2008) Biotinidase deficiency: a reversible metabolic encephalopathy—neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol 38:848–856
Engelsen BA, Tzoulis C, Karlsen B et al (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131:818–828
Engelbrecht V, Rassek M, Huismann J, Wendel U (1997) MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. AJNR Am J Neuroradiol 18(3):536–539
Finsterer J, Zarrouk Mahjoub S (2012) Epilepsy in mitochondrial disorders. Seizure 21:316–321
Gambardella A, Muglia M, Labate A et al (2001) Juvenile Huntington’s disease presenting as progressive myoclonic epilepsy. Neurology 57(4):708–711
Gobbi G (2005) Coeliac disease, epilepsy and cerebral calcifications. Brain Dev 27:189–200
Gordon N (2004) Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). Eur J Paediatr Neurol 8(5):261–265
Gospe SM Jr (2010) Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics. Dev Med Child Neurol 52(7):602–603
Haas R, Dietrich R (2004) Neuroimaging of mitochondrial disorders. Mitochondrion 4:471–490
Haeberle J, Shahbeck N, Ibrahim K et al (2012) Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. Orphanet J Rare Dis 7(1):48
Hakonen AH, Heiskanen S, Juvonen V et al (2005) Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77(3):430–441 (Epub 2005 Jul 27)
Head RA, Brown RM, Zolkipli Z et al (2005) Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol 58:234–241
Huisman TA, Thiel T, Steinmann B, Zeilinger G, Martin E (2002) Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation. Eur Radiol 12(4):858–861
Inglese M, Rovaris M, Bianchi S et al (2001) Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 70(4):444–449
Ito S, Shirai W, Asahina M, Hattori T (2008) Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation. Am J Neuroradiol AJNR 29(2):392–395
Jan W, Zimmerman RA, Wang ZJ et al (2003) MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 45(6):393–399
Klepper J, Leiendecker B (2007) GLUT1 deficiency syndrome—2007 update. Dev Med Child Neurol 49(9):707–716
Kono K, Okano Y, Nakayama K et al (2005) Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 236(2):630–636
Kovacs GG, Höftberger R, Najtenyl K et al (2005) Neuropathology of white matter disease in Lebers hereditary optic neuropathy. Brain 128:35–41
Kraoua I, Sedel F, Caillaud C et al (2011) A French experience of type 3 Gaucher disease: phenotypic diversity and neurological outcome of 10 patients. Brain Dev 33(2):131–139
Lamirel C, Cassereau J, Cochereau I et al (2010) Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 81(5):578–580
Lebre AS, Rio M, Faivre d’Arcier L et al (2011) A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet 48(1):16–23
Lee YM, Kang HC, Lee JS et al (2008) Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions. Epilepsia 49:685–690
Mascalchi M, Michelucci R, Cosottini M et al (2002) Brainstem involvement in Unverricht–Lundborg disease (EPM1): An MRI and (1)H MRS study. Neurology 58(11):1686–1689
Mills PB, Footitt EJ, Mills KA et al (2010) Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 133(Pt 7):2148–2159
Muñoz E, Campdelacreu J, Ferrer I et al (2004) Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy. Arch Neurol 61(6):946–949
Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS (2010) Mitochondrial dysfunction due to Leber’s hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery. Epilepsy Behav 20(1):38−43
Pearl PL, Gibson KM (2004) Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol 17(2):107–113
Pearl PL, Gibson KM, Acosta MT (2003a) Clinical spectrum of succine semialdehyde dehyfrogenase deficiency. Neurology 60:1413–1417
Pearl PL, Novotny EJ, Acosta MT et al (2003b) Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol 54(Suppl 6):S73–S80
Pearl PL, Shukla L, Theodore WH et al (2011) Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev 33:769–805
Prasad AN, Levin S, Rupar CA, Prasad C (2011a) Menkes disease and infantile epilepsy. Brain Dev 33:866–876
Prasad AN, Rupar CA, Prasard C (2011b) Methylene tetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy. Brain Dev 33:758–789
Press GA, Barshop BA, Haas RH et al (1989) Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol 10(2):315–321
Raghavendra S, Ashalatha R, Sanjee V et al (2007) Focal neuronal loss, reversible subcortical focal T2 hypointensity in seizures with a nonketotic hyperglycemic hyperosmolar state. Neuroradiology 49:299–305
Ramachandran N, Girard JM, Turnbull J, Minassian BA (2009) The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia 50(Suppl 5):29–36
Ribacoba R, Salas-Puig J, Gonzalez C, Astudillo A (2006) Characteristics of status epilepticus in MELAS. Analysis of four cases. Neurologia 21:1–11
Sammaritano M, Andermann F, Helanson D et al (1985) The syndrome of epilepsy and bilateral occipital cortical calcifications. Epilepsia 26:530
Saneto RP, Friedman SD, Shaw DWW (2008) Neuroimaging of mitochondrial disease. Mitochondrion 8:296–413
Santavuori P, Vanhanen SL, Sainio K et al (1993) Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria. J Inherit Metab Dis 16(2):227–229 (Review)
Santorelli FM, Shanske S, Macaya A et al (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh’s syndrome. Ann Neurol 34:827–834
Saudubray JM, Sedel F, Walter JH (2006) Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis 29(2–3):261–274
Sedel F, Gourfinkel-An I, Lyon-Caen O et al (2007) Epilepsy and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis 30(6):846–854
Seijo-MartÃnez M, Navarro C, Castro del RÃo M et al (2005) L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch Neurol 62(4):666–670
Sener RN (2003) Nonketotic hyperglycinemia: diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 27(4):538–540
Sévin M, Lesca G, Baumann N et al (2007) The adult form of Niemann–Pick disease type C. Brain 130(Pt 1):120–133
Shahwan A, Farrell M, Delanty N (2005) Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 4(4):239–248
Soares-Fernandes JP, Teixeira-Gomes R, Cruz R et al (2008) Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings. Pediatr Radiol 38:559–562
Stöckler S, Holzbach U, Hanefeld F et al (1994) Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 36(3):409–413
Stöckler-Ipsiroglu S, Plecko B (2009) Metabolic epilepsies: approaches to a diagnostic challenge. Can J Neurol Sci 36(Suppl 2):S67–S72
Taly AB, Nagaraja D, Das S et al (1987) Sturge–Weber–Dimitri disease without facial nevus. Neurology 37:1063–1064
Thomas B, Al Dossary N, Widjaja E (2010) MRI of childhood epilepsy due to inborn errors of metabolism. AJR Am J Roentgenol 194(5):W367–W374
Tzoulis C, Engelsen BA, Telstad W et al (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129(Pt 7):1685–1692
Van der Knaap M, Valk J (2005) GM2 gangliosidosis. In: Magnetic resonance of myelin and myelination disorders, 3rd edn. Springer, Berlin, Heidelberg, New York, pp 103–111
Vanhanen SL, Raininko R, Autti T, Santavuori P (1995) MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients. J Child Neurol 10(6):444–450
Vijayakumar K, Gunny R, Grunewald S et al (2011) Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. Pediatr Neurol 45(4):246–252
Villanueva V, Alvarez-Linera J, Gómez-Garre P et al (2006) MRI volumetry and proton MR spectroscopy of the brain in Lafora disease. Epilepsia 47(4):788–792
Walker-Smith JA, Guendalini S, Schmitz J et al (1990) Revised criteria for diagnosis of coeliac disease. Arch Dis Child 65:909–911
Wang CP, Hsieh PF, Chen CC et al (2005) Hyperglycemia with occipital seizures: images and visual evoked potentials. Epilepsia 46:1140–1144
Weller S, Rosewich H, Gärtner J (2008) Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metabol Dis 31:270–280
Whaley NR, Fukoja S, Wszolek ZK (2011) Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 6:33
Wolf B, Grier RE, Allen RJ et al (1983) Biotinidase deficiency: the enzyme defect in late-onset multiple carboxylase deficiency. Clin Chem Acta 131:273–281
Wolf B, Heard GS, Weissbecker KA et al (1985) Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 18(5):614–617
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2013 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Urbach, H., Reimann, J. (2013). Metabolic Disorders. In: Urbach, H. (eds) MRI in Epilepsy. Medical Radiology(). Springer, Berlin, Heidelberg. https://doi.org/10.1007/174_2012_757
Download citation
DOI: https://doi.org/10.1007/174_2012_757
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-25137-5
Online ISBN: 978-3-642-25138-2
eBook Packages: MedicineMedicine (R0)