Evaluation of Neonatal Acute Metabolic Crisis in Maple Syrup Urine Disease with MR Diffusion and MR Spectroscopy: Case Series and Review of the Literature

Abstract

Magnetic resonance imaging (MRI) findings of acute metabolic crisis in maple syrup urine disease (MSUD) in neonates were reviewed. This case cohort study included six MSUD neonates imaged during acute metabolic decompensation. Specific diffusion imaging and proton spectroscopic findings were reviewed. All patients revealed extensive intramyelinic cytotoxic edema typically involving myelinated white matter structures. Brainstem, cerebellar white matter and peduncles, midbrain, posterior limbs of internal capsules, central portions of periventricular, and perirolandic white matter regions showed typical MSUD edema. Gray matter structures such as dentate nucleus and thalamus were involved in all patients. Involvement of other deep nuclei was also noted in a few patients. None of the patients showed involvement of the superficial cortex. Reduction in N-acetyl aspartate, a prominent lactate peak, and a peak representing methyl groups of amino acids were characteristic findings seen on intermediate short echo time MR spectroscopy. Our case series outlines the importance of diffusion and spectroscopy MR techniques in the diagnosis of acute neonatal MSUD metabolic crisis.

Keywords

maple syrup urine disease - MR diffusion imaging - MR proton spectroscopy - neonate - acute metabolic crisis - intramyelinic edema - brain

Note

The authors used anonymized radiology images. Patients' photos are not used. They received written informed consent from all parents. They also received approval from Hospital Ethics committee for collection, analysis, and publication of data of all these patients.

Funding

None.

Publication History

Received: 16 December 2020

Accepted: 04 February 2021

Article published online:
22 March 2021

• References

• 1 Cavalleri F, Berardi A, Burlina AB, Ferrari F, Mavilla L. Diffusion-weighted MRI of maple syrup urine disease encephalopathy. Neuroradiology 2002; 44 (06) 499-502
• 2 Menkes JH, Hurst PL, Craig JM. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 1954; 14 (05) 462-467
• 3 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 (06) 522-525
• 4 Naughten ER, Jenkins J, Francis DE, Leonard JV. Outcome of maple syrup urine disease. Arch Dis Child 1982; 57 (12) 918-921
• 5 Parmar H, Sitoh YY, Ho L. Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings. J Comput Assist Tomogr 2004; 28 (01) 93-97
• 6 Zinnanti WJ, Lazovic J, Griffin K. et al. Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. Brain 2009; 132 (Pt 4): 903-918
• 7 Tavares RG, Santos CE, Tasca CI, Wajner M, Souza DO, Dutra-Filho CS. Inhibition of glutamate uptake into synaptic vesicles of rat brain by the metabolites accumulating in maple syrup urine disease. J Neurol Sci 2000; 181 (1-2): 44-49
• 8 Prensky AL, Carr S, Moser HW. Development of myelin in inherited disorders of amino acid metabolism. Arch Neurol 1968; 19 (06) 552-558
• 9 Cheng A, Han L, Feng Y. et al. MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases. Diagn Interv Radiol 2017; 23 (05) 398-402
• 10 Shambhavi. Sitaraman S, Chaudhary A. et al. Brain damage reversal on treatment in maple syrup urine disease: a case report. Pediatr Oncall J 2018; 15: 16-18
• 11 Brismar J, Aqeel A, Brismar G, Coates R, Gascon G, Ozand P. Maple syrup urine disease: findings on CT and MR scans of the brain in 10 infants. AJNR Am J Neuroradiol 1990; 11 (06) 1219-1228
• 12 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 (02) 162-165
• 13 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 (06) 393-399
• 14 Ferraz-Filho JRL, Floriano VH, Quirici MB, Albuquerque RP, Souza AS. Contribution of the diffusion-weighted MRI in the diagnosis and follow-up of encephalopathy caused by maple syrup urine disease in a full-term newborn. Arq Neuropsiquiatr 2009; 67 (3A) 719-723
• 15 Sener RN. Maple syrup urine disease: diffusion MRI, and proton MR spectroscopy findings. Comput Med Imaging Graph 2007; 31 (02) 106-110
• 16 Felber SR, Sperl W, Chemelli A, Murr C, Wendel U. Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy. Ann Neurol 1993; 33 (04) 396-401
• 17 Rawal S, Faghfoury H, Krings T. MRI findings of adult maple syrup urine disease exacerbation. Can J Neurol Sci 2013; 40 (02) 259-262
• 18 Bhat M, Prasad C, Bindu PS, Aziz Z, Christopher R, Saini J. Unusual imaging findings in brain and spinal cord in two siblings with maple syrup urine disease. J Neuroimaging 2013; 23 (04) 540-542