Publication: Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy
Date
2013
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 230 - 233
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
The newborn presenting with neurological symptoms such as seizures or lethargy due to inborn error of metabolism is an important problem. Maple syrup urine disease (MSUD) is an inherited genetic disease, caused by a deficiency of the catalytic components of α-ketoaciddehydrogenase complex, which is responsible for the catabolism of branched-chain amino acids. The purpose of this case report is to show diffusion-weighted imaging (DWI) MRI findings of acute phase of classic form of MSUD in a newborn although this imaging findings are rare but very typical, known as “MSUD oedema”.
Description
Diva Shah
Assitant Professor, Department of Radiodiagnosis, Pramukhswami Medical College, Shrikrishna Hospital, Gokal Nagar, Karamsad, Anand, Gujrat
Apoorv Nirula
Resident, Department of Radiodiagnosis, Pramukhswami Medical College, Shrikrishna Hospital, Gokal Nagar, Karamsad, Anand, Gujrat
Dwiti Shah
Resident, Department of Radiodiagnosis, Pramukhswami Medical College, Shrikrishna Hospital, Gokal Nagar, Karamsad, Anand, Gujrat
Keywords
Maple syrup urine disease, MSUD oedema, Classic form, metabolic encephalopathy
Identifier
https://doi.org/10.3126/jnps.v33i3.8365