Brain magnetic resonance imaging findings and radiologic review of maple syrup urine disease:Report of three cases  

作　　者：Yang Li Xia Liu Chong-Feng Duan Xiu-Feng Song Xun-Hui Zhuang 

机构地区：[1]Department of Radiology,Qingdao Women and Children’s Hospital,Qingdao 266011,Shandong Province,China [2]Department of Ultrasound,The Affiliated Hospital of Qingdao University,Qingdao 266000,Shandong Province,China [3]Department of Radiology,The Affiliated Hospital of Qingdao University,Qingdao 266000,Shandong Province,China

出　　处：《World Journal of Clinical Cases》2021年第8期1844-1852,共9页世界临床病例杂志

摘　　要：BACKGROUND Maple syrup urine disease(MSUD)is a rare autosomal-recessive disorder that affects branched-chain amino acid(BCAA)metabolism and is named after the distinctive sweet odor of affected infants’urine.This disease is characterized by the accumulation of BCAAs and corresponding branched-chain ketoacids of leucine,isoleucine,and valine in the plasma,urine,and cerebrospinal fluid.However,the mechanisms of MSUD-induced brain damage remain poorly defined.The accumulation of BCAAs in the brain inhibits the activity of pyruvate dehydrogenase andα-ketoglutarate,disrupting the citric acid cycle and consequently impacting the synthesis of amino acids,causing cerebral edema and abnormal myelination.CASE SUMMARY We report three neonates admitted to our hospital with the classic subtype of MSUD.All three patients,with a transient normal period,presented with poor feeding,vomiting,poor weight gain,and increasing lethargy after birth.Laboratory testing revealed metabolic acidosis.The serum tandem mass spectrometry amino acid profile showed elevated plasma levels of BCAAs(leucine,isoleucine,and valine).Brain magnetic resonance imaging(MRI)presented abnormal signals mainly involving the globus pallidus,thalamus,internal capsule,brainstem,and cerebellar white matter,which represent the typical myelinated areas in normal full-term neonates.CONCLUSION In our patients,MRI showed typical features,in concordance with the available literature.Early detection and timely treatment are very helpful for the prognosis of MSUD patients.Therefore,we discuss the neuroimaging features of MSUD to enhance the knowledge of pediatricians about this disease.

关 键 词：Maple syrup urine disease Magnetic resonance imaging Metabolic disorders Intramyelinic edema NEONATES Case report 

分 类 号：R596.1[医药卫生—内科学] R445.2[医药卫生—临床医学]