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Imaging in classic form of maple syrup urine disease: a rare metabolic central nervous system.

Jain A, Jagdeesh K, Mane R, Singla S - J Clin Neonatol (2013)

Bottom Line: The condition gets its name from the distinctive sweet odour of affected infants' urine.Imaging is characterestized by MSUD oedema affecting the myelinated white matter.We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiodiagnosis, M S Ramaiah Medical College and Teaching Hospital, Bangalore, Karnataka, India.

ABSTRACT
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid metabolism. The condition gets its name from the distinctive sweet odour of affected infants' urine. MSUD is caused by a deficiency of the branched-chain α-ketoacid dehydrogenase enzyme complex, leading to accumulation of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. Imaging is characterestized by MSUD oedema affecting the myelinated white matter. We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy.

No MeSH data available.


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Seven-day-old newborn. Axial T2-weighted MR images shows bilateral symmetrical hyperintensities in posterior limb of internal capsule (blue arrow in Figure 3a), central cerebellar white matter, and in the corticospinal tracts (blue arrow in Figure 3b)
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Figure 3: Seven-day-old newborn. Axial T2-weighted MR images shows bilateral symmetrical hyperintensities in posterior limb of internal capsule (blue arrow in Figure 3a), central cerebellar white matter, and in the corticospinal tracts (blue arrow in Figure 3b)

Mentions: Diffusion-weighted imaging (DWI) showed characteristic pattern of bilateral symmetrical restricted diffusion within the myelinated areas in the posterior limb of the internal capsule, centrum semiovale, corona radiata, corticospinal tract, thalami, posterior aspect of the mid brain, pons, middle cerebellar peduncle, medulla, and cerebellar white matter, attributed to intramyelinic edema[3] [Figure 3a and b].


Imaging in classic form of maple syrup urine disease: a rare metabolic central nervous system.

Jain A, Jagdeesh K, Mane R, Singla S - J Clin Neonatol (2013)

Seven-day-old newborn. Axial T2-weighted MR images shows bilateral symmetrical hyperintensities in posterior limb of internal capsule (blue arrow in Figure 3a), central cerebellar white matter, and in the corticospinal tracts (blue arrow in Figure 3b)
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3775146&req=5

Figure 3: Seven-day-old newborn. Axial T2-weighted MR images shows bilateral symmetrical hyperintensities in posterior limb of internal capsule (blue arrow in Figure 3a), central cerebellar white matter, and in the corticospinal tracts (blue arrow in Figure 3b)
Mentions: Diffusion-weighted imaging (DWI) showed characteristic pattern of bilateral symmetrical restricted diffusion within the myelinated areas in the posterior limb of the internal capsule, centrum semiovale, corona radiata, corticospinal tract, thalami, posterior aspect of the mid brain, pons, middle cerebellar peduncle, medulla, and cerebellar white matter, attributed to intramyelinic edema[3] [Figure 3a and b].

Bottom Line: The condition gets its name from the distinctive sweet odour of affected infants' urine.Imaging is characterestized by MSUD oedema affecting the myelinated white matter.We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiodiagnosis, M S Ramaiah Medical College and Teaching Hospital, Bangalore, Karnataka, India.

ABSTRACT
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid metabolism. The condition gets its name from the distinctive sweet odour of affected infants' urine. MSUD is caused by a deficiency of the branched-chain α-ketoacid dehydrogenase enzyme complex, leading to accumulation of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. Imaging is characterestized by MSUD oedema affecting the myelinated white matter. We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy.

No MeSH data available.


Related in: MedlinePlus