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Syndromes in CT: Maple Syrup Urine Disease Imaging Pearls - Educational Tools | CT Scanning | CT Imaging | CT Scan Protocols - CTisus
Imaging Pearls ❯ Syndromes in CT ❯ Maple Syrup Urine Disease

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  • “Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder that affects branched-chain amino acid (BCAA) metabolism. It is characterized by accumulation of BCAAs and corresponding branched-chain keto acids of leucine, isoleucine, and valine in plasma, urine, and cerebrospinal fluid. Leucine is toxic to brain cells, leading to cytotoxic edema affecting the myelinated white matter, and involving the corticospinal tracts, thalami, globus palladi, midbrain, dorsal brain stem, and cerebellum.”  
    Imaging Findings in Maple Syrup Urine Disease: A Case Report.  
    Kathait AS et al  
    J Pediatr Neurosci. 2018 Jan-Mar;13(1):103-105. 
  • "Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder of branched-chain amino acid (BCAA) metabolism. It has an annual incidence of 1 in 180,000 live births worldwide. Affected infants initially present with lethargy, irritability, feeding problems, and vomiting. If untreated, the disease progresses to cause seizures, coma, and eventually, death. The characteristic maple-syrup odor of the urine may occur late, and thus imaging provides a useful tool for early diagnosis.”
    Imaging Findings in Maple Syrup Urine Disease: A Case Report.  
    Kathait AS et al  
    J Pediatr Neurosci. 2018 Jan-Mar;13(1):103-105. 
  • "Management of MSUD involves two aspects: (1) metabolically appropriate diet (low in BCAAs) and (2) aggressive treatment of episodes of acute metabolic decompensation, via peritoneal dialysis to reduce cerebral edema and cytotoxic damage. Diet is, in most cases, sufficient to control clinical sequelae of MSUD. Most patients treated within a few days from the onset of symptoms survive and may not develop any residual neurological deficits. Liver transplantation remains the only definite cure for MSUD but is reserved for the few patients in which diet modification and other conservative management have failed to elicit a good response.”
    Imaging Findings in Maple Syrup Urine Disease: A Case Report.  
    Kathait AS et al  
    J Pediatr Neurosci. 2018 Jan-Mar;13(1):103-105. 
  • “MSUD is an autosomal recessive defect in the catabolism of branched-chain amino acids (ie, leucine, isoleucine, and valine). It is caused by mutations in any of the components of the mitochondrial branched-chain α-keto acid dehydrogenase complex.”
    Neuroimaging Findings of Organic Acidemias and Aminoacidopathies
    Nihaal Reddy et al.
    RadioGraphics 2018; 38:912–931
  • “In its classic form, MSUD manifests at the end of the 1st week of life, with severe neonatal encephalopathy, poor feeding, and vomiting. Dystonia (rhythmic boxing and cycling movements of the limbs), opisthotonic posturing, fluctuating ophthalmoplegia, and seizures follow. MSUD can be detected at newborn screening to facilitate presymptomatic initiation of therapy. Early detection is critical, as initiation of therapy within the first 5 days of life is associated with an improved neurodevelopmental outcome.”
    Neuroimaging Findings of Organic Acidemias and Aminoacidopathies
    Nihaal Reddy et al.
    RadioGraphics 2018; 38:912–931
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