MRI Findings of Maple Syrup Urine Disease-A Metabolic Central Nervous System Disease

Abstract

Maple syrup urine disease (MSUD) is a rare inherited autosomal recessive disease. It is characterized by impaired metabolism of branched-chain amino acids, which is caused by deficiency of branched chain α-ketoacid dehydrogenase enzymes complex. This leads to accumulation of branched chain amino acids includes leucine, isoleucine, and valine and their toxic by-products (ketoacids) in blood, urine and cerebrospinal fluid. The usual clinical presentation of patient is irritability, lethargy, poor feeding, vomiting, poor growth, and developmental symptoms. MSUD is characterized by radiological imaging features of cytotoxic brain edema affecting the white matter, and involving the corticospinal tracts, thalami, globus palladi, midbrain, dorsal brain stem and cerebellum. Here we present MRI features of classic MSUD in neonate which was later confirmed on biochemical investigations. syrup urine disease, autosomal recessive inherited disorder, amino acids, α-ketoacid dehydrogenase enzymes system