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Cranial computed tomography in a patient with a variant form of maple syrup urine disease
Insights
Dietary treatment improved symptoms in an infant with maple syrup urine disease (MSUD). Early CT scans showed brain edema, which resolved with treatment, indicating chronic edema, not acute aminoacid changes.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Medical Imaging
Background:
- Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder.
- Early diagnosis and dietary management are crucial for preventing neurological damage.
Observation:
- A male infant diagnosed with a variant form of MSUD received dietary treatment starting at 9 months.
- Pre-treatment CT scans revealed cerebral white matter lucidity and narrow lateral ventricles.
- Clinical symptoms improved with treatment, and CT findings showed increased white matter density.
Findings:
- A hyperaminoacidemic crisis occurred 2 months post-treatment, yet CT scans showed normal white matter lucidity and ventricle width.
- The pre-treatment lucency was attributed to chronic brain edema, not acute serum aminoacid levels.
Implications:
- This case highlights the importance of distinguishing between acute and chronic changes in MSUD imaging.
- Findings suggest that chronic edema may precede or coexist with acute metabolic crises in MSUD.
- Understanding the pathophysiology of white matter changes in MSUD is vital for refining treatment strategies.
Abstract:
A male infant, who was suspected to be a case of variant form of maple syrup urine disease (MSUD) has been given dietary treatment since the age of 9 months. Prior to the treatment, computed tomography (CT) showed abnormally high lucidity in the cerebral white matter area with the marked narrowness in size of the frontal horn of lateral ventricles. As the treatment proceeded, clinical symptoms alleviated, and CT findings have gradually changed with the result of improved density of the white matter. 2 months after starting the treatment, however, the patient suddenly developed a hyperaminoacidemic crisis that lasted 4-5 days. Despite this hyperaminoacidemia, CT scan taken during the crisis have revealed unexpectedly normal lucidity of the white matter as well as the normal width of the frontal horn. From these findings it was concluded that markedly lucent area in CT findings prior to the treatment was not due to an acute change in serum aminoacid concentration, but rather to chronic brain edema which had insidiously and gradually developed.