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Maple syrup urine disease

Smith ABS - MedPix (2007)

View Article: MedPix Image - MedPix Case

Affiliation: Uniformed Services University

ABSTRACT

Diagnosis: Maple syrup urine disease

History: 1 week old baby boy with poor feeding, now developing increasing vomiting. His mother reports a strange odor to his urine.

Findings: •Axial T2 weighted images reveal T2 prolongation, consistent with edema, in the deep cerebellar white matter, dorsal brainstem, cerebral peduncles, and posterior limb of the internal capsule. •MR spectroscopy reveals a broad peak at 0.9 ppm representing branched chain amino acids and branched chain alpha ketoacids. An abnormal peak is also present at 1.33 ppm consistent with lactate.

Ddx: • Maple syrup urine disease • Other aminoacidopathies presenting in the first week of life

Dxhow: Laboratory values revealing elevation of branched-chain amino acids.

Exam: Evaluation of plasma amino acids revealed elevation of branched chain amino acids, including alloisoleucine.

No MeSH data available.


Axial T2 weighted images demonstrate T2 prolongation within the deep cerebellar white matter, brainstem, cerebral peduncles, and posterior limbs of the internal capsule.  A variety of aminoacidopathies/aminoaciduria diseases produce diffuse and symmetric white matter changes.
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MPX1529_synpic39419: Axial T2 weighted images demonstrate T2 prolongation within the deep cerebellar white matter, brainstem, cerebral peduncles, and posterior limbs of the internal capsule. A variety of aminoacidopathies/aminoaciduria diseases produce diffuse and symmetric white matter changes.


Maple syrup urine disease

Smith ABS - MedPix (2007)

Axial T2 weighted images demonstrate T2 prolongation within the deep cerebellar white matter, brainstem, cerebral peduncles, and posterior limbs of the internal capsule.  A variety of aminoacidopathies/aminoaciduria diseases produce diffuse and symmetric white matter changes.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=MPX1529&req=5

MPX1529_synpic39419: Axial T2 weighted images demonstrate T2 prolongation within the deep cerebellar white matter, brainstem, cerebral peduncles, and posterior limbs of the internal capsule. A variety of aminoacidopathies/aminoaciduria diseases produce diffuse and symmetric white matter changes.

View Article: MedPix Image - MedPix Case

Affiliation: Uniformed Services University

ABSTRACT

Diagnosis: Maple syrup urine disease

History: 1 week old baby boy with poor feeding, now developing increasing vomiting. His mother reports a strange odor to his urine.

Findings: •Axial T2 weighted images reveal T2 prolongation, consistent with edema, in the deep cerebellar white matter, dorsal brainstem, cerebral peduncles, and posterior limb of the internal capsule. •MR spectroscopy reveals a broad peak at 0.9 ppm representing branched chain amino acids and branched chain alpha ketoacids. An abnormal peak is also present at 1.33 ppm consistent with lactate.

Ddx: • Maple syrup urine disease • Other aminoacidopathies presenting in the first week of life

Dxhow: Laboratory values revealing elevation of branched-chain amino acids.

Exam: Evaluation of plasma amino acids revealed elevation of branched chain amino acids, including alloisoleucine.

No MeSH data available.