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Neuropediatrics 2013; 44(04): 208-212
DOI: 10.1055/s-0032-1332741
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Diagnostic Tools of Early Brain Disturbances in an Asymptomatic Neonate with Maple Syrup Urine Disease

Demet Terek
1   Department of Pediatrics, Division of Neonatology, Ege University Faculty of Medicine, Izmir, Turkey
,
Ozge Koroglu
1   Department of Pediatrics, Division of Neonatology, Ege University Faculty of Medicine, Izmir, Turkey
,
Mehmet Yalaz
1   Department of Pediatrics, Division of Neonatology, Ege University Faculty of Medicine, Izmir, Turkey
,
Sarenur Gokben
2   Department of Pediatrics, Division of Neurology, Ege University Faculty of Medicine, Izmir, Turkey
,
Cem Calli
3   Department of Radiology, Ege University Faculty of Medicine, Izmir, Turkey
,
Mahmut Coker
4   Department of Pediatrics, Division of Metabolic Disorders and Nutrition, Ege University Faculty of Medicine, Izmir, Turkey
,
Nilgun Kultursay
1   Department of Pediatrics, Division of Neonatology, Ege University Faculty of Medicine, Izmir, Turkey
› Author Affiliations
Further Information

Publication History

15 August 2012

05 November 2012

Publication Date:
22 January 2013 (online)

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Abstract

Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder resulting from the defective activity of branched-chain 2-ketoacid dehydrogenase complex. Routine screening of newborn with tandem mass spectroscopy on the third day of life may detect elevated branched-chain amino acids in blood before the appearance of encephalopathic symptoms in MSUD cases. If undiagnosed by such a routine screening test, patients often present with encephalopathy and seizures. Clinical neurologic examination is supplemented by electroencephalography and imaging. Here, we report abnormal amplitude-integrated electroencephalography, electroencephalography, magnetic resonance imaging, and magnetic resonance imaging spectroscopy findings in a neurologically asymptomatic male newborn who was diagnosed with MSUD at the third week of life. These neurologic disturbances disappeared at the fourth month of life with appropriate special diet. Therefore, even in already asymptomatic cases, early neurologic deterioration of brain metabolism and structure can be detected with these early laboratory findings, indicating the importance of early diagnosis and management. Patients may also benefit from these investigations during the follow-up period.

Keywords

newborn - maple syrup urine disease - metabolic disorder - amplitude integrated electroencephalography - magnetic resonance spectroscopy
 

  • References

  • 1 Heldt K, Schwahn B, Marquardt I, Grotzke M, Wendel U. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification. Mol Genet Metab 2005; 84 (4) 313-316
    CrossrefPubMedGoogle Scholar
  • 2 Simon E, Fingerhut R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. J Inherit Metab Dis 2006; 29 (4) 532-537
    CrossrefPubMedGoogle Scholar
  • 3 Puckett RL, Lorey F, Rinaldo P , et al. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. Mol Genet Metab 2010; 100 (2) 136-142
    CrossrefPubMedGoogle Scholar
  • 4 Ogier de Baulny H, Saudubray JM. Branched-chain organic acidurias. Semin Neonatol 2002; 7 (1) 65-74
    CrossrefPubMedGoogle Scholar
  • 5 Gorzelany K, Dursun A, Coşkun T , et al. Molecular genetics of maple syrup urine disease in the Turkish population. Turk J Pediatr 2009; 51 (2) 97-102
    PubMedGoogle Scholar
  • 6 Toet MC, Lemmers PMA. Brain monitoring in neonates. Early Hum Dev 2009; 85 (2) 77-84
    CrossrefPubMedGoogle Scholar
  • 7 Jan W, Zimmerman RA, Wang ZJ, Berry GT, Kaplan PB, Kaye EM. MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 2003; 45 (6) 393-399
    CrossrefPubMedGoogle Scholar
  • 8 Theda C. Use of amplitude integrated electroencephalography (aEEG) in patients with inborn errors of metabolism—a new tool for the metabolic geneticist. Mol Genet Metab 2010; 100: 42-48
    CrossrefPubMedGoogle Scholar
  • 9 Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B. Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity. Int J Neurosci 1994; 79 (1–2) 21-45
    PubMedGoogle Scholar
  • 10 Cakmakci H, Pekcevik Y, Yis U, Unalp A, Kurul S. Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature. Eur J Radiol 2010; 74: 161-171
    CrossrefPubMedGoogle Scholar
  • 11 Sakai M, Inoue Y, Oba H , et al. Age dependence of diffusion-weighted magnetic resonance imaging findings in maple syrup urine disease encephalopathy. J Comput Assist Tomogr 2005; 29 (4) 524-527
    CrossrefPubMedGoogle Scholar
  • 12 Harper PAW, Healy PJ, Dennis JA. Ultrastructural findings in maple syrup urine disease in Poll Hereford calves. Acta Neuropathol 1986; 71 (3-4) 316-320
    CrossrefPubMedGoogle Scholar
  • 13 Righini A, Ramenghi LA, Parini R, Triulzi F, Mosca F. Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema. J Neuroimaging 2003; 13 (2) 162-165
    PubMedGoogle Scholar
  • 14 Kilicarslan R, Alkan A, Demirkol D, Toprak H, Sharifov R. Maple syrup urine disease: diffusion-weighted MRI findings during acute metabolic encephalopathic crisis. Jpn J Radiol 2012; 30 (6) 522-525
    CrossrefPubMedGoogle Scholar