Journal of Pediatric Neurology
DOI: 10.1055/s-0041-1726312
Review Article

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

1  Anushka MRI & CT Scan Centre, King Edward Memorial Hospital, Pune, Maharashtra, India
,
Sandeep Kadam
2  Department of Pediatrics, King Edward Memorial Hospital, Pune, Maharashtra, India
,
Amit Bhalke
3  Department of Radiodiagnosis, King Edward Memorial Hospital, Pune, Maharashtra, India
,
Sohan Lal Choudhary
3  Department of Radiodiagnosis, King Edward Memorial Hospital, Pune, Maharashtra, India
,
Pushpak Patil
3  Department of Radiodiagnosis, King Edward Memorial Hospital, Pune, Maharashtra, India
› Author Affiliations

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.

Note

The authors have used anonymized radiology images. Patients' photos are not used. They have received written informed consent from all parents. They have 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

Publication Date:
22 March 2021 (online)

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany