![]() In classic MSUD oedema/restriction pattern usually affects the dorsal brainstem, cerebral peduncles, thalami, globi pallidi and cerebellar white matter. The changes in cell osmolarity and metabolism can reverse completely after metabolic correction in metabolic decompensated MSUD with clinical neurological improvement. Acute “metabolic rescue” to reverse cerebral oedema may require haemodialysis during acute crisis to limit neurotoxicity. Metabolic "intoxication" at any age may be provoked by infection, injury, stress, fasting, or even pregnancy. MSUD has potentially favourable outcome with strict dietary control and aggressive treatment of metabolic crises, and may survive to adulthood if well controlled, as in this case report. DWI is more sensitive than conventional MRI in detecting MSUD brain alterations and it can become a useful tool for early diagnosis and follow-up. NECT of brain shows diffuse bilaterally symmetrical oedema not sparing brainstem and cerebellum. Classic appearing MSUD oedema involving cerebellar white matter, brain stem, globus pallidus, thalamus, cerebral peduncles, and corticospinal tracts. Imaging features are diagnostic in the early weeks of life. Maple syrup odour may be difficult to identify in first few days of life. In crisis, patient’s urine smells like maple syrup, secondary to the large accumulation of isoleucine. If untreated, MSUD can lead to seizures, coma, and death. īeginning in early infancy, within the 4-7 days of life this condition presents with poor feeding, vomiting, lethargy and developmental delay. Increased plasma isoleucine is associated with maple syrup odour. The rapid accumulation of leucine in particular causes neurological symptoms. This disease leads to accumulation of BCAA and metabolites. In most patients, onset occurs in the neonatal period and infancy. It is divided into four major categories: Classic, intermediate, intermittent, and thiamine-responsive, which carry differing symptoms and prognostic factors. This disease has a recessive autosomic inheritance, with an incidence of 1/185,000 newborns, without differences between male and female. ![]() Background: Maple syrup urine disease (MSUD) is secondary to a deficiency of deshydrogenase complex of a cetoacid of branched-chain.
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