Publication:
Maple syrup urine disease: diffusion-weighted MRI findings during acute metabolic encephalopathic crisis

No Thumbnail Available
Date
2012-07-01
Authors
KILICARSLAN, Rukiye
Alkan, ALPAY
DEMIRKOL, Demet
Toprak, HÜSEYİN
Sharifov, RASUL
Journal Title
Journal ISSN
Volume Title
Publisher
Research Projects
Organizational Units
Journal Issue

Metrics

Search on Google Scholar

Abstract
Maple syrup urine disease (MSUD) is caused by a genetic defect of branched-chain amino acids, which include leucine, isoleucine and valine. We report diffusion-weighted imaging (DWI) findings in a newborn child with MSUD who presented with acute metabolic encephalopathic crisis. DWI (b = 1,000 s/mm(2)) showed high signal localized within the myelinated white matter (WM) areas including the cerebellar white matter, pons, bulbus, cerebral peduncles, lentiform nucleus, posterior limbs of the internal capsules, corona radiata and bilateral perirolandic cortex. The apparent diffusion coefficient values of these regions were markedly low in the affected areas. The presence of these findings was considered cytotoxic or intramyelinic edema evidenced by restricted water diffusion. In conclusion, our findings suggest that during the acute phase and early encephalopathic crisis stage of MSUD, DWI can demonstrate the involvement of myelinated WM in newborns.
Description
Keywords
Citation
KILICARSLAN R., Alkan A., DEMIRKOL D., Toprak H., Sharifov R., -Maple syrup urine disease: diffusion-weighted MRI findings during acute metabolic encephalopathic crisis-, JAPANESE JOURNAL OF RADIOLOGY, cilt.30, ss.522-525, 2012
Page Views

0

File Downloads

0

Sustainable Development Goals